Genetic diseases of the human eye. Diseases of the organs of vision. Types of eye diseases

This is a rare disease. A detailed picture of the disease is present when the syndrome is inherited. Hippel-Lindau syndrome is transmitted by a defective gene in the third pair of chromosomes as an autosomal dominant disease, i.e. It is enough to have one copy of the “sick” gene to get the disease; it is enough for only one of the parents to have one “sick” gene, and 50% of the children of such a person have a chance of getting the disease. In the hereditary form of the disease, health problems usually appear in the first 20 years of life.

But not all patients diagnosed with hemangioblastoma of the retina or central nervous system (CNS) have a hereditary syndrome. In fact, most patients with only one tumor do not have affected relatives and do not acquire other tumors. It is believed that such people have sporadic (random, first-time)

Retinal hemangioblastoma is diagnosed upon examination of the fundus as a nodule of various sizes with a developed vascular network around it. The liquid part of the blood is often filtered through the leaky walls of hemangioblastoma vessels, which causes retinal swelling or detachment. In advanced cases, the eye dies from retinal detachment or glaucoma. Retinal hemangioblastomas are not life-threatening; in this sense, they are benign tumors. Their malignancy is associated with their localization in the eye, which can lead to blindness. CNS tumors also do not metastasize, but are already life-threatening, again due to their location. As a rule, they develop in the posterior cranial fossa, where vital centers that control heartbeat, breathing, and digestion are located. Their compression can lead to death. Kidney cancer and pheochromocytomas are dangerous due to their ability to spread throughout the body.

Treatment of the disease depends on the location, number and size of the tumor(s). For small and medium-sized retinal tumors, laser coagulation of the tumor and adj.

For timely diagnosis of life-threatening manifestations of Hippel-Lindau syndrome, a regular examination is necessary, which should include: 1) an annual examination by a therapist, neurologist and ophthalmologist (with a thorough examination of the fundus), 2) an annual examination of urine for vanillyl mandelic acid, 3) magnetic resonance imaging of the brain every 3 years until the age of 50, then every 5 years, 4) computed tomography of the abdominal wall organs every 1−5 years, 5) angiography of the renal vessels when the patient reaches 15−20 years of age, repeating the procedure every 1−5 years.

The cost of treatment can vary greatly depending on which organ is affected and what kind of surgery is required. Unfortunately, this systemic disease cannot be cured, and the only thing that is available to modern medicine is the treatment of complications of this disease. Laser photocoagulation of the retina is often indicated as a way to prevent further deterioration of vision. As a treatment method, this operation has one of the highest safety rates.

Genetic eye diseases are diseases caused by changes in the genetic code that appear throughout life and can cause vision problems that, to a greater or lesser extent, affect the patient's quality of life. Due to their genetic nature, they are most often inherited by children from their parents and can affect various tissues of the visual system: the retina in the macula area, the cornea, the optic nerve, etc. More than 60% of cases of childhood blindness are due to genetic factors.

What are the main causes of eye diseases of genetic origin?

• Retinal dystrophy. It is a series of genetic diseases of the retina that lead to the degeneration of photoreceptor cells (rods and cones). The main disease is retinitis pigmentosa, a disease that affects the cells of the retina, mainly the rods, which are responsible for peripheral vision and vision in low light conditions. Cones, which are photoreceptor cells responsible for color vision, may also be affected. The causes of this disease are genetic changes that may differ from patient to patient.
• Congenital glaucoma - This is a rare type of glaucoma that develops in infants and young children and is hereditary and has a genetic basis.
• Congenital. Cataracts usually appear in old age and are clouding of the lens. However, in the case of congenital cataracts, it is already present at the birth of the child for genetic reasons. It can be hereditary and develop in one or both eyes.
• Hereditary. In some cases, strabismus can be hereditary if there is a family history of strabismus. It is recommended to conduct a complete ophthalmological examination of the child.
• Developmental defects. Anophthalmia (complete absence of one or both eyes), microphthalmia (unusually small size of the eyeball) and many other malformations of the visual system.
• Colorblindness. An X-linked genetic disorder in which the ability to perceive colors is impaired due to the absence or malfunction of the retinal cones—the cells responsible for perceiving the colors green, red, and blue.
• Corneal dystrophies, a group of diseases that cause a loss of transparency of the cornea.
• Atrophy and inflammation of the optic nerve of a hereditary nature. For optic nerve atrophy There is progressive loss of vision due to damage to the optic nerve, which may have hereditary causes. Another hereditary disease is Leber optic neuropathy, in which mitochondrial inheritance plays an important role.
• Systemic diseases that affect vision. Some systemic diseases that can be classified as genetic diseases are: Gravis disease or diabetes, may affect vision.

There are other diseases that are very common in the general population, such as macular or corpus luteum degeneration and glaucoma, that give the highest risk of development to those people who have a family history of these diseases. Age-related macular degeneration is degenerative disease, which affects the part of the retina responsible for central vision. The main risk factor here is age, and there is a high risk of developing the disease after 60 years of age. It manifests itself in disturbances in the perception of clarity, shape and size of images. is a disease that damages the optic nerve and can lead to progressive loss of peripheral vision.

Why is it important to have eye exams?

Ophthalmological examinations are necessary to detect any type of genetic disease. That's why, if you have a family history of diseases that can be inherited and affect your vision, it is very important to undergo a thorough eye examination in order to rule out their presence or begin timely treatment if they are present.

Manifests itself in the form of hypersensitivity reactions to any irritant (cosmetics, dust, wool, etc.). In this case, the severity of symptoms varies from mild hyperemia, itching of the skin of the eyelids to manifestations of toxic-allergic keratitis (inflammatory disease of the cornea of ​​the eye in humans), damage to the retina and optic nerve. The most common are allergic dermatitis and conjunctivitis.

Amblyopia

A visual disorder in which one eye plays the primary role in vision. At the same time, the activity of the other is suppressed (“lazy eye”). There is a progressive decrease in vision. Amblyopia results in strabismus, where one eye deviates to the side. More often, the pathology manifests itself in children. Early diagnosis and treatment (conservative or surgical) contributes to complete recovery.

Angiopathy

Vascular disease of the ​retina​ ​of the human eye, which occurs when blood circulation is impaired, the nervous regulation of vascular tone. Based on the pathology that caused angiopathy, it can be: hypertensive, diabetic, hypotonic, traumatic. It manifests itself as blurred and decreased vision, “lightning” in the eyes. The diagnosis is made based on examination of the fundus of the eye (ophthalmoscopy). It is more common in people over 30 years of age.

Anisocoria

It manifests itself as a difference in the diameter of the pupils of the right and left eyes. It may be a variant of the physiological norm or arise as a result of concomitant diseases. In the first case, the condition usually does not cause complaints and does not require treatment. In the second, the symptoms of the pathology that caused anisocoria are noted (limited mobility of the eyeballs, pain, photophobia, etc.).

Asthenopia

The state of overwork of the organs of vision is accompanied by symptoms of visual stress: pain, hyperemia, blurring, double vision, lacrimation, headaches, and so on. The main cause of asthenopia is prolonged concentration of attention on a nearby object (computer screen, TV, etc.). In an advanced stage, blepharitis, conjunctivitis, and myopia may develop.

Astigmatism

A defect in the structure of the optics of the eye, in which light rays are incorrectly focused on the retina. Based on the disturbance in the shape of the lens or cornea, lens astigmatism, corneal astigmatism, or general astigmatism are distinguished when they are combined. Symptoms of the disease include decreased vision, blurred, unclear images, double images, fatigue, eye strain, and headache.

Blepharitis

Ophthalmic inflammatory pathology of the eyelid margins, often having a chronic form. It can be an independent infectious eye disease in humans, caused by various pathogens, or be a consequence of other diseases of the body (gastrointestinal, endocrine and others). It manifests itself as hyperemia, swelling of the eyelids, burning, itching, loss and sticking of eyelashes, and discharge.

Blepharospasm

Spasm of the orbicularis oculi muscle, externally manifested as increased squinting. In this case, disturbances in lacrimation, swelling of the eyelids, and lacrimation may occur. Possible causes of the pathology are age-related changes, damage to the facial nerve, brain structures, various diseases, and taking antipsychotics. A severe form of the pathology actually makes people blind with normal vision function.

Myopia​ ​(myopia)

Violation of the optical structure of the eye, when the focus of the image is concentrated not on the retina, but in its anterior plane. As a result, objects at a far distance appear blurry and indistinct. At the same time, visual function in relation to near images remains normal. Based on the degree of pathology, the disorder varies from mild blurring of contours to severe blurriness of the object.

Temporal arteritis

Damage to arteries (mainly ophthalmic, temporal, vertebral) due to dysfunction of the immune system. As a result, a chronic inflammatory process occurs, accompanied by a sharp deterioration in vision, including peripheral vision, sometimes to the point of complete loss (with occlusion of the central retinal artery), paralysis of the oculomotor nerve, and ocular ischemic syndrome. It is more often observed in people over 60-80 years of age.

Hemophthalmos​ ​(bleeding​ ​in​ ​the eye)

Blood entering the eye cavity (vitreous body), accompanied by the appearance of dots, cobwebs, shadows in front of the eye, blurred vision up to its sudden loss while maintaining photosensitivity (light - darkness). The causes of the pathology are ruptures of newly formed vessels, retinal detachment with a rupture or its rupture without detachment, trauma, eye surgery, general vascular diseases (hypertension, vasculitis, oncology and others).

Heterochromia

A rare condition characterized by varying or uneven coloration of the irises of the eyes. It is a consequence of a deficiency or excess of melanin. The less it is in the iris, the lighter the color. There are many photos on the Internet with various variations of this pathology. The causes of the disease, when a person has different eyes, are heredity, neurofibromatosis, trauma, taking medications for glaucoma, and others.

Hyphema

It is characterized by the penetration of blood into the anterior chamber of the eye and sedimentation in its lower part. Based on the volume of blood, visual acuity may deteriorate, sometimes the patient can only distinguish light. The causes of the pathology are injuries, eye surgeries, eye diseases with the growth of newly formed vessels in the iris, general diseases (impaired hemostasis, anemia, blood cancer, alcoholism, etc.).

Glaucoma

Chronic pathology leading to irreversible damage to the optic nerve due to periodic or constant increases in intraocular pressure. Often has an asymptomatic course or is accompanied by blurring, decreased peripheral vision, pain in the eye, multi-colored circles in front of it when looking at a bright light. There are open-angle and closed-angle glaucoma; without treatment, the pathology leads to blindness.

Dacryoadenitis

Inflammation of the lacrimal gland, acute or chronic. In the first case, it occurs as a result of infectious diseases (mumps, scarlet fever, tonsillitis, etc.). In the second, it may be present in tuberculosis, blood cancer, and syphilis. The pathology is manifested by pain in the gland area, hyperemia, swelling, exophthalmos is possible. If treatment is untimely, an abscess or abscess occurs, which is accompanied by an increase in body temperature and malaise.

Dacryocystitis

Inflammation of the lacrimal sac, acute or chronic. It occurs as a result of a violation of the outflow of tears caused by inflammatory conditions of the nasal cavity, its sinuses, and the bones surrounding the lacrimal sac. It manifests itself as swelling, hyperemia of the area, lacrimation, purulent discharge from the lacrimal openings. Pathology can provoke dangerous purulent-septic complications (meningitis, brain abscess).

Farsightedness​ ​(hypermetropia)

A vision defect characterized by focusing of the image behind the retina. With a low degree of pathology (up to +3 diopters), visual function is within normal limits; with a moderate degree (up to +5 diopters), there is good distance vision and difficulty at close range. With a pronounced degree (over +5 diopters), the patient suffers from poor vision both near and far. Headaches, eye fatigue, amblyopia, strabismus, etc. may also occur.

Colorblindness

Visual dysfunction, manifested in the inability to distinguish colors. In this case, the degree of impairment may vary: from the inability to distinguish one or more colors to a complete lack of perception of shades. The pathology occurs due to dysfunction of color-sensitive receptors (cones) in the center of the retina; it can be congenital or acquired (due to injuries, eye diseases, age-related changes, etc.).

Demodicosis

A pathological change in the structural structure of the gel-like substance that fills the cavity between the retina and the lens of the eye. There is a thickening of the filamentous elements of the vitreous body with a decrease in transparency and their subsequent liquefaction and wrinkling. Clinically, the pathology manifests itself as black dots before the eyes. The causes are age-related changes, local inflammation, trauma, organ dysfunction (liver, kidneys and others).

Diabetic​ ​retinopathy

A complication of diabetes mellitus, characterized by damage to the vessels of the retina and cornea of ​​varying severity. May lead to blindness. The pathology develops with increased permeability and proliferation of newly formed vessels throughout the retina, causing its detachment and loss of vision. It may occur for a long time without symptoms, there may be no clarity of the image, and then gradual or sudden deterioration of vision occurs.

Diplopia​ (double vision)

Visual dysfunction, which consists of doubling the image due to deviation of the eyeball of one eye. Based on the location of the muscle lesion, there is parallel doubling or the location of the objects in question one above the other. When one eye is closed, double vision stops in most cases (except for monocular diplopia). Patients may experience dizziness and difficulty assessing the location of objects.

Retinal dystrophy

Progressive irreversible changes in the retina of the eye, leading to deterioration or loss of vision. Found in different age categories. The causes are vascular lesions (hypertension, coronary heart disease, trauma, diabetes), myopia, and heredity. Pathology can develop during pregnancy. There may be an asymptomatic course or manifestations in the form of dots before the eyes, a blind spot in the center, decreased vision in the dark, and its distortion.

Posterior​ ​vitreous​ ​detachment

Detachment of the vitreous hyaloid membrane from the inner retinal membrane. The pathology is manifested by the flickering of flies, flakes, lace, etc. (especially when looking at a plain background), a dark “curtain” in front of the eye, and blurred vision. Lightning may be present in the form of bright flashes of light (especially with closed eyelids). Usually the pathology does not require treatment.

Iridocyclitis

Refers to an infectious ophthalmological disease. It is an inflammatory condition of the ciliary body and iris of the eye (anterior uveitis), often caused by common diseases (herpes, influenza, etc.). The pathology is expressed by hyperemia of the eyeball, change in the color of the iris, irregular shape of the pupil, pain in the eye, temple, lacrimation, photophobia, and slight impairment of vision.

Cataract

The gradual replacement of water-soluble proteins in the structure of the lens with water-insoluble ones, which is accompanied by its inflammation, swelling and turbidity, and loss of transparency. The pathology is characterized by a progressive course and irreversible changes. Cataract damages the entire lens or part of it, causing a decrease in visual function, almost complete loss, color blindness, double vision, sensitivity to bright lighting.

Keratitis

Refers to a bacterial, viral eye disease in humans, characterized by an inflammatory process in the cornea of ​​the eye. Based on the degree of damage to its layers, superficial and deep keratitis are distinguished. Symptoms of the disease include hyperemia of the mucous tissue of the eyelids, eyeball, sensation of a foreign object in the eye, pain, blepharospasm, lacrimation, clouding of the cornea (thorn).

Keratoconus

Progressive thinning of the cornea, followed by bulging (due to intraocular pressure) and taking on an irregular shape (conical instead of spherical). It usually develops from adolescence, appearing by the age of 20-30, starting in one eye, but subsequently spreading to both. There is a progression of vision loss, image distortion, myopia, and eye fatigue.

Cyst

Benign formation of congenital or acquired origin. The initial manifestations of cystosis are the formation of small blisters with hyperemic skin near them. The pathology is accompanied by blurred vision, dull pain in the eyeball. The causes of cysts include inflammatory, degenerative conditions, birth defects, long-term therapy with potent eye medications, and trauma.

Coloboma of the eye

An eye defect characterized by the absence of part of the eye membrane. Coloboma can be congenital (due to intrauterine disorders) or acquired (as a result of trauma, necrosis, non-viability of elements of the eye structure). Symptoms of the pathology include the inability to regulate the volume of incoming light, the inability of the eye to contract, impaired accommodation, the appearance of scotoma, and a cosmetic defect.

Computer​ ​visual​ ​syndrome

Unfavorable symptoms, the provoking factor of which is working at the computer. It manifests itself as eye fatigue, a feeling of heaviness in the eyelids, and frequent blinking. As symptoms progress, blurred vision, lacrimation, photosensitivity, a feeling of “sand” in the eyes, hyperemia, dryness, burning, pain in the eye sockets and forehead may occur.

Molluscum contagiosum

Refers to a viral eye disease in humans that affects the skin and mucous membranes. It is more common in childhood and is contagious. The pathology is expressed in the appearance of small painless dense nodules of a convex shape with an umbilical depression in the middle. When they are compressed, a white substance is released. The disease can cause itching, dermatitis, conjunctivitis, and scarring.

Conjunctivitis

Inflammatory process in the transparent mucous membrane of the eye - the conjunctiva. It can be bacterial, viral, fungal, allergic, while some types are very contagious (the disease is most often spread by contact transmission). Acute or chronic conjunctivitis is possible. The disease is accompanied by swelling and hyperemia of the eyelids, discharge (mucous or purulent), itching, photosensitivity, burning, and pain.

Strabismus

The phenomenon of deviation of the eyes from a common point of fixation, in which they look in different directions. Occurs as a result of uncoordinated work of the oculomotor muscles. Strabismus can be periodic or constant, accompanied by impaired binocular vision. Among its causes are myopia, trauma, astigmatism, severe farsightedness, pathologies of the central nervous system, birth defects, infections, psychotrauma, and somatic diseases.

Xanthelasma

A benign formation of a yellowish color in the eyelid area, small in size (the size of a bean), which is an accumulation of cholesterol. The pathology indicates a disorder of lipid metabolism and develops in middle-aged and elderly people. Requires differentiation of the diagnosis from a cancerous tumor. As the disease progresses, plaques can increase and merge, transforming into xanthomas (nodules).

Night blindness

Visual dysfunction in low light. A sharp deterioration in visual function is observed at night, at dusk, when entering a dark room from a light one, etc. Difficulties arise with orientation in space, a narrowing of the visual field, and a lack of perception of blue and yellow colors are observed. The pathology can be congenital, symptomatic (with retinal dystrophy, glaucoma, optic nerve atrophy), or essential (with vitamin A deficiency).

Leiomyoma​ ​of the iris

A rare benign formation from the muscle tissue of the iris. The growth of leiomyoma is slow, the pathology can be asymptomatic, and is manifested by a change in the shade of the iris. If the tumor is large, complications may occur: hyphema, decreased vision, increased intraocular pressure, glaucoma, cataracts, eye destruction (if the tumor grows).

Macular degeneration

Degenerative pathology of the macula (center of the retina), developing as a result of degenerative phenomena in the retinal tissue. The most common cause of loss of central vision in people over 50 years of age, however, the pathology does not lead to complete blindness (peripheral visual function is preserved). There are difficulties when reading, looking at small details, distortion of contours, and blurring of the image.

Macular edema

It is a symptom of various eye diseases (uveitis, diabetic retinopathy, retinal vein thrombosis). It is swelling of the macula (the center of the retina), responsible for central vision, due to the accumulation of fluid in its tissue. The description of the symptoms includes distortion of the image, its acquisition of a pink tint, clouding of central vision, periodic loss of vision (usually in the morning), and photosensitivity.

Macular hole

Rupture of retinal tissue in the macular zone. The defect can be partial or through, and usually occurs in people over 50 years of age, mainly in women. Symptoms appear gradually as the rupture slowly forms. Deterioration of central vision, distortion of image contours, and decreased color perception are noted. In this case, peripheral visual function is preserved, symptoms are observed in the affected eye.

Mydriasis​ ​(dilation of​ ​pupil)

Pupil dilation, which can be physiological (in low light, stress) or pathological, unilateral or observed in both eyes. Pathological mydriasis can occur with the use of certain medications, with paralysis of the sphincter of the pupil (with epilepsy, glaucoma, hydrocephalus, etc.), with intoxication (botulism, poisoning with quinine, cocaine, etc.), with spasm of the dilator of the pupil (with brain damage).

Myodesopsia

Myodesopsia is an eye disease in humans, characterized by the flashing of dark “floaters”, dots, spots in front of the eyes, which slowly move when the eyes move and after they stop. The patient sees floaters best on a light, uniform background. Pathology indicates destructive changes in the structure of the vitreous body. It can be observed with fatigue, retinal diseases, myopia, hemorrhage, and vascular problems.

Impaired​ ​peripheral​ ​vision

Impaired lateral vision of varying severity: from small non-functioning areas to limited visibility to an island in the central part (tunnel vision). In this case, disturbances can be observed in one or two eyes. Among the causes of pathology are glaucoma, damage to the retina, optic nerve, brain, and increased intracranial pressure.

Optic neuritis

Acute inflammation of the optic nerve, accompanied by deterioration of vision. The pathology develops unexpectedly; there is a sharp decrease in visual function, color perception, and the appearance of a “spot” in front of the eye (periodic or constant). Possible pain behind the orbit, headache (with retrobulbar neuritis). The causes are infections, somatic diseases, injuries, and alcohol intoxication.

Nevus​ ​choroid

A benign formation consisting of a cluster of pigment cells (choroidal nevus). It is formed from birth, but is usually found in adults (after pigmentation). Most often located in the posterior part of the fundus. Initially localized in the superficial tissues of the choroid, subsequently penetrating deep into the layers. There are stationary (single-colored and not growing) and progressive (prone to enlargement) nevi.

Neovascularization​ ​(rubeosis)​ ​of the iris

Formation of newly formed vessels on the iris of the eye. At the same time, they are fragile and easily injured, causing hyphema. By spreading to the angle of the anterior chamber of the eye, they provoke the development of secondary glaucoma. The causes of the pathology are diabetic retinopathy, retinal vein thrombosis and retinal detachment, and circulatory disorders in the orbital artery.

Formation of newly formed vessels in corneal tissue. The causes of the pathology include injuries, eye burns, the use of contact lenses, inflammation of the cornea, degenerative, dystrophic changes in it, and operations in this area. There are superficial, deep and combined neovascularization. As a result of the pathology, the transparency of the cornea decreases, vision deteriorates until it is completely lost.

Nystagmus

A rare pathology characterized by uncontrolled, repetitive eye movements. There are pendulum (uniform movements from one side to the other), jerking (slow movement to the side and rapid return to the original position) nystagmus. Usually the pathology is present from birth, but can manifest itself in adults after injuries, diseases of the brain and eyes. Low visual function is noted.

Occlusion of the​ ​central​ ​retinal artery

Disruption of the blood supply to the retinal tissue, as a result of which nerve cells die. As a result of occlusion (vascular accident), irreversible loss of vision occurs. The pathology occurs against the background of hypertension, narrowing of the lumen of the carotid artery, atherosclerosis, heart and vascular diseases. In this case, there is a sharp partial loss of the visual field or a decrease in the visual function of one eye.

Retinal detachment

Pathological separation of the retinal layers from the choroid and pigment epithelium. It is a dangerous condition that requires urgent surgical intervention to avoid complete loss of vision. The pathology is painless and is characterized by a decrease in visual function, including lateral vision, the appearance of lightning, a veil, sparks before the eyes, distortion of the contours, shape, and size of images.

Ophthalmohypertension

Increased intraocular pressure without pathological changes characteristic of primary glaucoma. It is expressed by a feeling of fullness in the eyes, aching in them, and a headache. There are essential and symptomatic ocular hypertension. The first occurs in middle-aged and elderly people due to an imbalance in the production and outflow of moisture. The second is the result of another pathology (diseases of the eyes, the body, the action of toxic factors, etc.).

Pigmentary​ ​abiotrophy​ ​of the retina

A rare hereditary dystrophic pathology characterized by damage to the retinal rods. In this case, there is a decrease in visual function in low light, a progressive deterioration of peripheral vision (to the point of complete loss), a decrease in visual acuity, and color perception of the image. The pathology provokes the development of glaucoma, macular edema, cataracts, and lens opacities. May lead to blindness.

Pinguecula

A thickened yellowish formation in elderly people, standing out against the background of the white conjunctiva. It is considered a sign of her aging. Provoking factors for the occurrence of pathology are exposure to ultraviolet radiation, smoke, wind, and so on on the conjunctiva. Accompanied by dryness, discomfort in the eye area, redness around the pinguecula, and a feeling of a foreign body. Pingveculitis (inflammation and swelling of the formation) may occur.

Eyelid twitching

A common phenomenon caused by repeated contractions of the orbicularis oculi muscle. Usually the attack of twitching passes quickly and spontaneously. However, sometimes it can last for weeks, creating severe discomfort. The causes of the phenomenon may be overwork, stress, increased strain on the eyes, dry eyes, allergies, and consumption of caffeine-containing drinks.

Cloudiness of the cornea (sore)

An eye defect in which the cornea loses its transparency and ability to transmit light waves and becomes white. Later, the color of the leukoma becomes yellowish. Preservation of visual function depends on the size and location of the cataract (urgent treatment is required if it is centrally located). Usually there is partial loss of vision. Treatment of the pathology is possible with the help of surgery.

Presbyopia

Age-related farsightedness associated with changes in the lens after 40 years. It thickens, loses elasticity, and makes it impossible to focus vision on nearby objects. Manifestations of the disease include blurred images near, eye strain when focusing (when reading, sewing, etc.), fatigue, and headaches.

Proliferative​ ​vitreoretinopathy

Proliferation of fibrous tissue in the retina and vitreous body. There are primary (the disease is not caused by any reason) and secondary (damage to the eye due to trauma, retinal detachment and rupture, surgery, diabetes, etc.) proliferative vitreoretinopathy. As a result of the pathology, fusion of the vitreous body and the retina occurs, increasing the likelihood of its detachment, leading to blindness in the absence of surgery.

Pterygium

A degenerative pathology characterized by the growth of the conjunctiva towards the center of the cornea. As the pterygium progresses, it can spread to the center of the optical zone of the cornea, causing a decrease in visual function. At the initial stage, the course is asymptomatic; as pathology develops, hyperemia, swelling, itching of the eye, sensation of a foreign object, and blurred vision are noted. Treatment of the disease is surgical.

Ptosis

Drooping of the upper eyelid from slight to pronounced with closure of the palpebral fissure. Pathology is observed in children and adults. Based on the degree of severity, it can be partial (the eyelid drops to the level of the upper third of the pupil), incomplete (to the middle), complete (closing of the pupil). Ptosis is accompanied by irritation, eye fatigue, tension when closing them, squint, and double vision. The “stargazer pose” (throwing back the head) is typical.

Retinal tears

Damage to the integrity of the retina, often leading to its detachment. An asymptomatic course of the pathology is possible. There may be lightning in the eyes (especially in dark places), flickering of spots, loss of vision, narrowing of its fields, image distortion, one-sided veil (a symptom of retinal rupture and detachment). The disease requires urgent medical attention to avoid complete loss of vision.

Retinitis

An inflammatory process affecting the retina of the eye. The main cause of the disease is an infection, the causative agents of which are various pathogenic microorganisms: fungi, viruses, bacteria, etc. The pathology is manifested by a decrease in visual function, the severity of which depends on the localization of inflammation, changes in color perception, distortion of images, the appearance of lightning, sparks before the eyes.

Retinoschisis

Detachment of the retina as a result of the accumulation of fluid between its layers. In this case, its dysfunction occurs, mainly in the peripheral part. There is a decrease in lateral vision. With severe damage, the patient becomes disoriented in poor lighting. If the center of the retina is damaged, there is a risk of permanent vision loss. Detachment and hemophthalmos may occur.

Recurrent​ ​corneal erosion

Damage to the corneal epithelium, prone to recurrence. It is formed after injury to the surface layer of the cornea or as a result of dystrophic changes in it. The pathology is manifested by pain in the eye immediately after the formation of erosion, a feeling of a foreign body in it, hyperemia, lacrimation, photosensitivity, decreased vision (with a large size and central localization of the damage).

Photophobia

Increased sensitivity to light, accompanied by pain, stinging, burning in the eyes, the desire to squint or close the eyes. Symptoms are caused by sunlight or artificial light. Photophobia is a sign of various pathologies: inflammation of the eyes (keratitis, conjunctivitis and others), their damage (burn, erosion), hereditary conditions (albinism, color blindness), various diseases (infectious, nervous system), intoxications.

Cat's eye syndrome

A rare chromosomal pathology that has 2 main manifestations: a defect in the iris (cat's eye) and the absence of an anus. The main cause of the disease is heredity. Cat's eye disease in humans is accompanied by a complex of severe symptoms: complete or partial absence of the iris, drooping of the outer corners of the eyes, epicanthus, coloboma, cataracts, and strabismus. There are also signs of damage to other organs (heart, blood vessels, kidneys, etc.).

Red eye syndrome

A symptom of numerous diseases of the visual organs, manifested by hyperemia of the eye area, mainly the conjunctiva. Such pathologies include conjunctivitis, trauma, glaucoma, dry eye syndrome, uveitis, allergies, iridocyclitis, etc. Hyperemia may be accompanied by pain, burning, itching, swelling, photophobia, lacrimation, and foreign body sensation.

Marfan syndrome

Hereditary defect caused by connective tissue deficiency. There is increased extensibility of body tissues, which forms the basis for the resulting disorders. Ocular manifestations include myopia, changes in the iris (coloboma), glaucoma, subluxation or dislocation of the lens, cataracts, retinal detachment, and strabismus.

Dry eye syndrome

A common condition caused by disruption of the processes of production and evaporation of tears from the cornea. The main cause of the pathology is insufficient tear production. The syndrome can be caused by excessive strain on the eyes, the use of contact lenses, exposure to dust, wind, smoke, irritation from cosmetics, taking certain medications, hormonal imbalance, etc. The pathology is accompanied by discomfort, burning, eye hyperemia, lacrimation and other symptoms.

Scleritis

Inflammatory condition of the fibrous membrane of the eyeball. The causes of the pathology are rheumatoid arthritis, ankylosing spondylitis, systemic lupus erythematosus and others. The infectious nature of the disease is possible. Manifestations of the disease include hyperemia of the eyeball, the formation of inflammatory nodules, thinning of the sclera, pain, increased photosensitivity, and lacrimation. When the process moves to other tissues, vision loss may occur.

Tearing

Secretion of tear fluid. Increased production and impaired outflow can be caused by many conditions: a reaction to pain, stress, etc., irritating effects on the conjunctiva or nasal mucosa, inflammatory phenomena in the eye, pathologies of the lacrimal gland, anatomical defects, allergies, dry eye syndrome, old age (with weakness of the tear duct muscles).

Spasm of accommodation

Visual defect, manifested by symptoms of eye fatigue. More often, the pathology is observed in children when the daily routine is violated, or the student has an unorganized workplace. However, pathology is also possible in adults. It is caused by prolonged reading, computer activity, embroidery, etc. Manifestations include fatigue of the organs of vision, hyperemia, pain, pain in the eyes, headaches, deterioration of distance vision (false myopia).

Subconjunctival hemorrhage

Irrigation of blood from a damaged vessel under the conjunctiva. Pathology can occur in older people (due to fragility of blood vessels, atherosclerosis, diabetes), with a sharp increase in venous pressure (during coughing, lifting heavy objects, vomiting), during injuries, and operations. Despite the pronounced cosmetic defect, this type of hemorrhage does not pose a danger.

Trachoma

An infectious eye disease caused by chlamydia. Patients experience damage to the cornea and conjunctiva, leading to severe scarring of the tissues of the latter, the cartilage of the eyelids and complete loss of vision (reversible). The pathology is usually observed in both eyes, initially the conjunctiva becomes inflamed, hyperemia and discharge appear, in the later stages the cornea becomes cloudy, and entropion develops. Trachoma has been eliminated in Russia.

Thrombosis of​ ​the central​ ​retinal vein

The pathology is more often observed in middle-aged and elderly people with a history of atherosclerosis, hypertension, and diabetes mellitus. In a young population, thrombosis can be the result of general diseases (influenza, pneumonia, sepsis), local infection (inflammatory phenomena in the teeth, sinuses), and hemostasis disorders. The pathology is manifested by a decrease in visual function or the appearance of blind spots in the field of view of one eye.

Uveitis

Inflammatory condition of all or individual parts of the choroid (anterior, posterior). In this case, damage to surrounding tissues (sclera, retina, optic nerve) is possible. The causes of pathology can be infections, injuries, immune and metabolic dysfunctions. Symptoms include blurred or decreased vision, photophobia, eye hyperemia, lacrimation, and pain in the affected area.

Chalazion

A small, hard mass inside the eyelid that occurs as a result of inflammation and blockage of the meibomian gland. The formation of the defect is caused by the accumulation of its secretion. The causes of pathology include diseases of the digestive tract and weakened immunity. A chalazion is manifested by swelling of the eyelid, pain and irritation of the tissues (at the initial stage), then a convex spot of a red or gray hue is formed.

Central​ ​serous​ ​chorioretinopathy

Limited retinal detachment as a result of fluid entering under its tissue due to increased capillary permeability. The disease is observed in different age categories (20-60 years), the presumed causes are physical activity and stress. It occurs suddenly and is manifested by decreased vision (if there is damage in the center of the retina), image distortion, and the appearance of a darkened translucent area in front of the eye.

Exophthalmos

A defect in the organs of vision, manifested in the form of forward movement of one or both eyeballs. The disease of ​bulging eyes​ ​in a person can occur with endocrine ophthalmopathy, inflammation of the lacrimal gland, adipose tissue, blood vessels, tumor of the orbit, trauma with hemorrhage, and varicose veins. The symptom of protrusion manifests itself in varying degrees of severity. Strabismus, double vision, corneal dystrophy, and compression of the optic nerve may occur.

Ectropion​ ​(inversion​ ​of the eyelid)

A defect of the organs of vision, characterized by an inversion of the eyelid outward with exposure of the conjunctiva. Pathology is observed exclusively in the lower eyelid. Accompanied by lacrimation (due to impaired fluid outflow), skin irritation (due to excess tear moisture), sensation of a foreign body, sand in the eye, and its hyperemia. Pathology becomes a provoking factor for infection.

Endophthalmitis

A severe purulent inflammatory process in the eye cavity, causing blindness and loss of the eyeball. The cause of the development of pathology can be eye injury with penetration of a foreign object, inflammation in the iris or choroid, surgery, or severe ulcerative defect. Among the manifestations of the disease are a decrease and narrowing of the visual field, pain, and wrinkling of the eyeball. The process may spread to all membranes of the eye.

Entropion​ ​(turning​ ​of the eyelid)

A defect in the organs of vision, characterized by an inward turning of the eyelid, with its ciliary edge in contact with the conjunctiva and cornea. Usually the pathology is present in the lower eyelid. Accompanied by severe irritation of the eye, a feeling of a foreign body in it, hyperemia, pain when blinking, microtrauma of the cornea or erosions, lacrimation, photophobia. Pathology can cause infection.

Embolism​ ​of the retinal artery

Severe circulatory disturbance in the retinal artery. It is characterized by rapid progression and leads to complete blindness. The causes of the pathology are blockage of a vessel by a blood clot (for example, with atherosclerosis), arteritis, narrowing of the lumen of the large carotid arteries, tumors (when the artery is compressed). The pathology manifests itself as a painless decrease in vision up to its complete loss.

Epicanthus

An anatomical feature of the structure of the eye, which consists in the presence of a fold of skin on the side of the nose connecting the upper and lower eyelids. It is usually observed in both eyes, sometimes with varying degrees of severity. Characteristic of the eastern population. With pronounced epicanthus, narrowing of the palpebral fissure, injury to the ciliary edge of the cornea, difficulty in the outflow of tears and closure of the eyelids are possible. In this case, surgical correction is performed.

Epiretinal membrane

It is a transparent film located above the macula. This scar tissue pulls on the retina, causing folds and wrinkles. The pathology can be caused by eye diseases (diabetic retinopathy, retinal rupture, thrombosis of its central vein or branches), inflammatory conditions, and hemorrhages. Signs of the disease include decreased central vision in one eye, clouding, distortion of image contours, and double vision.

Episcleritis

Inflammatory process in episcleral tissue (between the conjunctiva and sclera). There are simple and nodular episcleritis. Provoking factors of pathology are exposure to chemicals, foreign bodies, allergies, and insect bites. Symptoms include discomfort, eye hyperemia, swelling, and clear discharge. In some cases, the disease recurs.

Erosion of the cornea

Damage to the corneal epithelium, mainly of traumatic origin. Pathology is caused by trauma (including contact lenses), foreign body entry, exposure to high temperatures, chemicals, and the like. Erosion is manifested by pain in the eye, the feeling of a foreign object, photophobia, and hyperemia. With a large size and central position of the lesion, a decrease in visual function is possible.

Corneal ulcer

Pathology of the cornea, caused by significant damage to its tissues deeper than Bowman's membrane, usually of a purulent nature. The causes of the disease include eye injuries, exposure to chemicals and high temperatures, and exposure to pathogenic microorganisms (bacteria, viruses, fungi). Symptoms include severe pain in the eye, profuse lacrimation, photophobia, hyperemia, decreased vision (if the central zone is affected).

Barley

Purulent inflammatory lesion of the meibomian gland located inside the ciliary margin (internal barley) or the hair follicle of the eyelash (external barley). The cause of the pathology is a bacterial infection, usually Staphylococcus aureus. Symptoms of the disease include hyperemia, swelling of the edge of the eyelid, itching, pain when touched, lacrimation, foreign body sensation, sometimes fever, and general malaise.

Plan

Introduction

Autosomal recessive mode of inheritance

Autosomal dominant type of inheritance

Glued to the floor

For all types of inheritance

Conclusion

Used Books

Introduction

In recent decades, the role of heredity in the etiology of eye diseases has increased significantly. It is known that 4–6% of the world's population suffer from hereditary diseases. About 2000 human diseases are hereditary, of which 10–15% are eye diseases, and the same amount are systemic diseases with ocular manifestations. The mortality rate and hospitalization of these patients are the highest, so early diagnosis and treatment of such diseases is not only a medical problem, but also a national one.

Children especially often suffer from hereditary and congenital defects. According to Canadian geneticists, congenital deformities account for 18.4%, most of which are genetically determined. The mortality rate for these diseases reaches 30%.

There is information about 246 pathological genes that cause congenital abnormalities of the organ of vision, which appear in isolation or in combination with damage to other organs and systems. Of these, dominant ones are determined by 125 genes, recessive ones by 91 genes, and sex-related genes by 30 genes. The role of hereditary factors in the etiology of diseases of the organ of vision was identified in 42.3% of cases.

Many anomalies arise in connection with the abnormal development and formation of the eye or its individual components during various periods of ontogenesis. They can develop in the very initial stages of eye formation under the influence of many physical, chemical, teratogenic agents and dysfunction of hormonal processes. For example, microphthalmos is a consequence of disorders that arose during the formation phase of the optic vesicle. Exposure to harmful factors at later stages of eye development leads to the formation of defects in the lens and retina of the optic nerve. It should, however, be noted that the occurrence of these developmental defects may be a consequence of phenocopy (hereditary changes in the phenotype of an organism caused by environmental factors and copying the manifestation of any known hereditary change - mutations in this organism).

Progress in the prevention of congenital eye diseases lies in proper control of factors that can influence the disease in a pregnant woman. Proper prenatal care and appropriate nutrition provide the fetus with favorable development conditions. After clarifying the diagnosis and establishing the type of inheritance of the disease, the ophthalmologist, together with a geneticist and other medical specialists, must determine the risk of such a defect occurring in the offspring. Medical genetic consultations help prevent blindness from many hereditary eye diseases.

Hereditary pathology of the organ of vision with an autosomal recessive type of inheritance

The autosomal recessive type of inheritance manifests itself only in the marriage of two heterozygotes. Therefore, such signs are found when the parents are closely related. The lower the concentration of an autosomal recessive gene in a population, the greater the likelihood of its implementation if the parents are consanguineous.

Anophthalmos is the congenital absence or loss of one or both eyeballs. It can be true and imaginary. True anophthalmos is most often unilateral, associated with underdevelopment of the forebrain or with a violation of the optic nerve. Imaginary anophthalmos is caused by delayed development of the eyeball. On an x-ray of the skull, with true anophthalmia, the optic foramen is not detected; with imaginary anophthalmia, it is always present.

Nystagmus (eye tremors) is rapid and infrequent voluntary eye movements caused by central or local causes, caused by a peculiar form of clinical convulsions of the oculomotor muscles. Movements are made in horizontal, vertical and rotational directions. Nystagmus develops with congenital or acquired visual impairment in early childhood, when there is no fixation by the macula of the retina. Nystagmus does not cause concern to patients, but they suffer greatly from weakness of vision, which is difficult to correct. With age, its intensity may decrease. Nystagmus can also appear in some diseases of the central nervous system, in cases of damage to the labyrinth, etc. Treatment is most often unsuccessful. The cause itself must be eliminated.

Cryptophthalmos – deformation of the eyelids and the entire anterior part of the eyeball is observed. Cryptophthalmos is often accompanied by pronounced facial deformities, syndactyly (fusion of the hands and feet, for example the little finger with the ring finger), genital anomalies, etc.

Retinoblastoma is a true malignant neoplasm of the retina that occurs in children at an early age (from several months to 2 years). In 15% of cases it can be bilateral. The disease is initially invisible, but when the disease reaches a significant size and approaches the back surface of the lens, parents notice a glow in the pupil. In this case, the eye is blind, the pupil is wide, and a yellowish-white reflex is visible from the depths of the pupil. This entire complex of symptoms is called “amaurotic cat's eye.” Retinoblastoma develops from immature glial elements of the retina and is initially visible as thickening of the retina in a limited area. If the eye is not removed in time, tumor growth into the orbit and cranial cavity is observed. Treatment is early removal of the eye followed by radiotherapy. Attempts at radiotherapy and chemotherapy did not produce convincing positive results.

Retinal glioma is a malignant neoplasm of the optic nerve, a tumor of glia (the interstitial tissue of the central nervous system), grows slowly, reaching the size of a nut or a goose egg. It can lead to complete blindness and even death. The tumor most often develops at an early age. It is possible that older people may be affected. The first signs of optic nerve tumors are decreased vision and changes in the visual field. Exophthalmos increases slowly. In this case, the eye usually protrudes forward, its mobility, as a rule, is preserved in full. Treatment is surgical.

Hereditary pathology with an autosomal dominant type of inheritance

Autosomal dominant inheritance of anomalies is characterized primarily by significant phenotypic variability: from a barely noticeable to an excessively intense trait. As it is passed on from generation to generation, this intensity increases more and more. Apart from the inheritance of blood properties, modern anthropogenetics so far has information mainly only about rarely occurring characters, many of which are inherited according to Mendel’s laws or are a case of additions to them.

Astigmatism - discovered at the end of the 18th century. Astigmatism is a combination in one eye of different types of refraction or different degrees of one type of refraction. In astigmatic eyes, the two perpendicular planes of section with the greatest and least refractive power are called the principal meridians. Most often they are located vertically or horizontally. But they can also have an oblique arrangement, forming astigmatism with oblique axes. In most cases, refraction in the vertical meridian is stronger than in the horizontal one. This type of astigmatism is called direct. Sometimes, on the contrary, the horizontal meridian refracts more strongly than the vertical one - reverse astigmatism. Distinguish between right and wrong. The abnormal one is usually of corneal origin. It is characterized by local changes in the refractive power on different segments of one meridian and is caused by diseases of the cornea: scars, keratoconus, etc. The correct one has the same refractive power throughout the entire meridian. This is a congenital anomaly, is inherited and changes little throughout life. People suffering from astigmatism (about 40 - 45% of the world's population) need optical correction, that is, without glasses they cannot see objects in different planes. It can be eliminated with glasses with cylindrical lenses and contact lenses.

Hemerolopia is a persistent impairment of twilight vision (night blindness). Central vision decreases, the field of vision gradually narrows concentrically.

Coloboma is a defect in the edge of the eyelid in the form of a triangular or semicircular notch. It is most often observed on the upper eyelid in its middle third. Often combined with other facial deformities. Treatment – ​​for these anomalies, plastic surgery gives good results.

Aniridia is the absence of the iris, a severe congenital pathology of the vascular tract of the eye. There may be partial or almost complete aniridia. There is no need to talk about complete aniridia, since histologically, at least minor remnants of the iris root are detected. With aniridia, there are frequent cases of congenital glaucoma with phenomena of stretching of the eyeball (hydrophthalmos), which depend on the overgrowth of the anterior chamber angle with embryonic tissue. Aniridia is sometimes combined with anterior and posterior polar cataracts, lens subluxation, and rarely, lens coloboma.

Microphthalmos is underdevelopment of the entire eyeball, with a decrease in all its sizes, “small eye.”

Lens ectopia – displacement of the lens lens. The most typical example is ectopia of the lens, observed in a family-hereditary lesion of the entire musculoskeletal system, which is expressed in elongation of the distal phalanges of the fingers and toes, elongation of the limbs, and joint weakness. Severe endocrine disorders. This disease is called arachnodactyly, or Marfan syndrome. In this case, a symmetrical displacement of the lens is detected in the eyes. More often the lens is displaced upward and inward or upward and outward.

Displacement of the lens may be accompanied by the development of cataracts.

Agreement No. 1
public offer for voluntary donation

Interregional public organization for the promotion and assistance of patients with hereditary retinal diseases “To see!” (MOO “To See!”), hereinafter referred to as the “Beneficiary” represented by President Baibarin Kirill Aleksandrovich, acting on the basis of the Charter, hereby invites individuals and legal entities or their representatives, hereinafter referred to as the “Donor”, ​​collectively referred to as the “Parties”, conclude a Voluntary Donation Agreement on the following terms:

1. General provisions on public offer

1.1. This proposal is a public offer in accordance with paragraph 2 of Article 437 of the Civil Code of the Russian Federation.
1.2. Acceptance (acceptance) of this offer is the Donor's transfer of funds to the Beneficiary's bank account as a voluntary donation for the statutory activities of the Beneficiary. Acceptance of this offer by the Donor means that the latter has read and agrees with all the terms of this Agreement on voluntary donation with the Beneficiary.
1.3..
1.4. The text of this offer may be changed by the Beneficiary without prior notice and is valid from the day following the day of its posting on the Site.
1.5. The Offer is valid until the day following the day the notice of cancellation of the Offer is posted on the Site. The Beneficiary has the right to cancel the Offer at any time without giving reasons.
1.6. The invalidity of one or more terms of the Offer does not entail the invalidity of all other terms of the Offer.
1.7. By accepting the terms of this agreement, the Donor confirms the voluntary and gratuitous nature of the donation.

2. Subject of the agreement

2.1. Under this agreement, the Donor, as a voluntary donation, transfers his own funds to the Beneficiary’s current account, and the Beneficiary accepts the donation and uses it for statutory purposes.
2.2. The Donor's performance of actions under this agreement constitutes a donation in accordance with Article 582 of the Civil Code of the Russian Federation.

3. Activities of the Beneficiary

3.1 The main purpose of the Beneficiary’s activities is:
providing comprehensive assistance and support to patients with hereditary retinal diseases, including social, psychological and labor adaptation, training;
promoting the prevention, diagnosis, treatment and research in the field of inherited retinal diseases;
attracting the attention of government agencies and the public to the problems of people with hereditary retinal diseases; representation and protection of the rights and legitimate interests of persons of this category and members of their families in government bodies; protection of the common interests of the Beneficiary's members;
development of comprehensive cooperation between public organizations and health authorities, promoting the strengthening of connections between science, education and practice;
international cooperation in the field of care for patients with hereditary retinal diseases;
establishing personal contacts, communication between members of the Beneficiary, providing mutual support and assistance;
promoting activities in the field of prevention and health protection of citizens, promoting a healthy lifestyle, improving the moral and psychological state of citizens;
promoting the implementation of humane and peace-loving initiatives of public and government organizations, projects and programs of international and national development.
The main types of activities of the Beneficiary in accordance with the current legislation of the Russian Federation are specified in the Charter of the Beneficiary.
3.2..

4. Conclusion of an agreement

4.1. Individuals and legal entities or their representatives have the right to accept the Offer and thereby conclude an Agreement with the Beneficiary.
4.2. The date of acceptance of the Offer and, accordingly, the date of conclusion of the Agreement is the date of crediting funds to the Beneficiary’s current account or, in appropriate cases, to the Beneficiary’s account in the payment system. The place of conclusion of the Agreement is the city of Moscow of the Russian Federation. In accordance with paragraph 3 of Article 434 of the Civil Code of the Russian Federation, the Agreement is considered to be concluded in writing.
4.3. The terms of the Agreement are determined by the Offer as amended (including amendments and additions) valid on the day of execution of the payment order or the day of depositing cash into the Beneficiary's cash desk.

5. Making a donation

5.1. The Donor independently determines the amount of the voluntary donation (one-time or regular) and transfers it to the Beneficiary using any payment method specified on the website under the terms of this Agreement. According to Article 582 of the Civil Code of the Russian Federation, donations are not subject to VAT.
5.2. Purpose of payment: “Donation for statutory activities. VAT is not assessed” or “Voluntary donation for statutory activities” or “Voluntary donation for statutory purposes”.
5.3. Donations received by the Beneficiary without specifying a specific purpose are directed to achieve the statutory goals of the Beneficiary
5.4. The donor has the right to choose the object of assistance at his own discretion, indicating the appropriate purpose of payment when transferring the donation.
5.5. Upon receipt of a donation indicating the last and first name of the person in need, the Beneficiary sends the donation to help this person. In the event that the amount of donations to a specific person exceeds the amount necessary to provide assistance, the Beneficiary informs the Donors about this by posting information on the website. The Beneficiary uses the positive difference between the amount of donations received and the amount necessary to help the specific person for the statutory purposes of the Beneficiary. A donor who does not agree with the change in the purpose of financing has the right to request a refund in writing within 14 calendar days after the publication of the specified information.
5.6. When transferring a Donation through an electronic payment system, the Donor may be charged a commission depending on the chosen payment method (electronic money, SMS payments, money transfers). Donations transferred by the Donor through the electronic payment system are accumulated by the payment system in the system's accounts, then the total amount of money collected over a certain period is transferred to the Fund's current account. The electronic system may deduct a commission from the amount of money transferred to the Fund’s current account. The amount of funds received by the Fund will be equal to the amount of the Donation made by the Donor, minus the fees charged by the payment system.
5.7. The donor can arrange for a regular (monthly) debit of the donation from a bank card.
The order is considered completed from the moment the donation is first successfully debited from the bank card.
The order for regular debiting is valid until the owner’s card expires or until the Donor submits a written notice of termination of the order. The notification must be sent to the email address info@site at least 10 days before the date of the next automatic debit. The notification must contain the following information: last name and first name, as indicated on the bank card; the last four digits of the card from which the payment was made; email address to which the recipient will send confirmation of the termination of regular debiting.

6. Rights and obligations of the parties

6.1. The Beneficiary undertakes to use the funds received from the Donor under this agreement strictly in accordance with the current legislation of the Russian Federation and within the framework of statutory activities.
6.2. The Donor gives permission to process and store personal data used by the Beneficiary solely for the execution of the specified agreement, as well as to inform the activities of the Beneficiary.
6.3. Consent to the processing of personal data is given to the Donor for an indefinite period. In case of withdrawal of consent, the Beneficiary undertakes to destroy or depersonalize the Donor's personal data within 5 (five) business days.
6.4. The Beneficiary undertakes not to disclose the Donor's personal and contact information to third parties without his written consent, except in cases where this information is required by government agencies that have the authority to require such information.
6.5. The donation received from the Donor, due to the closure of the need, partially or completely not spent according to the purpose of the donation specified by the Donor in the payment order, is not returned to the Donor, but is redistributed by the Beneficiary independently to other current programs and the statutory goals of the Beneficiary.
6.6. At the request of the Donor (in the form of an email or regular letter), the Beneficiary is obliged to provide the Donor with information about the donations made by the Donor.
6.7. The Beneficiary does not bear any other obligations to the Donor other than the obligations specified in this Agreement.

7. Other conditions

7.1. In the event of disputes and disagreements between the Parties under this agreement, they will, if possible, be resolved through negotiations. If it is impossible to resolve a dispute through negotiations, disputes and disagreements may be resolved in accordance with the current legislation of the Russian Federation in the courts at the location of the Beneficiary.

8. Details

BENEFICIARY:
Interregional public organization for the promotion and assistance of patients with hereditary retinal diseases “To see!”

Legal address: 127422, Moscow, Dmitrovsky proezd, building 6, building 1, apartment 122,

OGRN 1167700058283
TIN 7713416237
Gearbox 771301001