Stargardt disease. Stargardt disease Congenital stationary blindness

Stargardt's dystrophy occurs as a result of the transmission of a pathological gene that encodes the synthesis of the ATP carrier protein to light-sensitive retinal cells. Due to a lack of energy, these formations die off with the forcing of a dark spot in the field of vision or incorrect perception of the color gamut, as well as the shape of surrounding objects. Treatment consists of supportive care to slow the progression of symptoms.

The disease usually manifests itself in childhood or adolescence.

Etiology

Stargardt's disease is inherited and is transmitted in an autosomal dominant or recessive manner. The occurrence of retinal dystrophy does not depend on gender. In this case, there is a violation of protein synthesis, which is involved in the transport of ATP to the macular zone. This phenomenon provokes the death and disruption of the functional activity of light-sensitive cells, which is caused by a lack of energy transport to them from the choroid. There is also an accumulation of trans-retinal protein, which turns into lipofuscin, which has a toxic effect on the retina. The protein is a product of the breakdown of rhodopsin, and in the process of disease progression, its restoration is disrupted. With a dominant type of inheritance, the disease proceeds much easier.

Varieties

With the central type of pathology, the spot covers the object to which the gaze is directed.

Stargardt degeneration, depending on the location of the focus of the pathological process on the retina, can be of the following types:

• Central. It is manifested by the loss of the main zone of the visual field and the appearance of scotoma at the point of gaze fixation.
• Peripheral. It is characterized by the appearance of a dark spot on the side of the point of focus of the gaze.
• Mixed.

Main symptoms

Stargardt's syndrome is characterized by the occurrence of such clinical signs in a patient:

• poor vision of black and white objects;
• damage to both eyes;
• violation and misperception of colors;
• the appearance of a central or peripheral scotoma;
• complete blindness caused by atrophy of the optic nerve.

Diagnostic methods

To check the correctness of the diagnosis, the doctor performs an ophthalmoscopy.

It is possible to identify that a patient has Stargardt's macular degeneration by the presence of clinical signs characteristic of this pathology. To confirm the diagnosis, it is recommended to perform ophthalmoscopy, where a ring on the retina with reduced pigmentation is found. Also, pathological inclusions are determined on the macula. When color perception is detected, red-green deuteranopia is observed, when one color is seen by the patient as completely different. Electrography shows a decrease in the transmission of nerve impulses. It is also recommended to perform fluorescein angiography, which reveals a dark choroid. Perform a biopsy of the macula area with subsequent histological examination. The diagnosis is confirmed by the accumulation of a large amount of lipofuscin in the biopsy specimen. The final diagnosis is made after molecular genetic analysis and the detection of a defective gene.

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Characteristic signs and consequences of retinal abiotrophy and its prevention

Retinal abiotrophy is a rare pathology that manifests itself in retinal dystrophy, which can be congenital or acquired. The reason for its development is numerous mutations, which led to a variety of options for the course of the disease. Because of this, the prognosis of the disease is uncertain: some forms of abiotrophy contribute to a decrease in the sharpness of peripheral vision, while others provoke blindness.

The term "abiotrophy" means a hidden anomaly of an individual organ or body system.

Abiotrophy of the retina (retina) is a complex genetic degeneration that belongs to rare pathologies and is characterized by damage to the most important cells of the photoreceptors of the organ of vision - rods and cones. The disease occurs as a result of damage to the genes that are responsible for the functioning of the retina and ensuring the process of supplying nutrients to it. Under such conditions, a slow but irreversible degenerative process occurs. It extends to the outer layer of the retina, where the rods and cones are located, which are also part of the photoreceptors.

The first of them are located over the entire surface of the retina, but most of them are distant from the center. The main function of the sticks is to ensure the development of the visual fields and full vision in the dark.

Cones are localized in the central part of the reticulum of the eyeball. Their function is to perceive the color spectrum and ensure the quality of the central region of vision.

The first attempts to explain what retinal abiotrophy is were made in the second half of the 19th century. The pathology was called "retinitis pigmentosa". In the future, the disease began to be called primary tapetoretinal or rod-cone dystrophy.

Usually the pathological process captures both organs of vision at once. If a child has retinal degeneration, then the first signs of the disease are detected at an early age. By about the age of 20, this leads to serious disorders: loss of vision, the development of glaucoma, clouding of the lens.

Another dangerous complication of dystrophic lesions of the retina is the degeneration of the affected cells into malignant ones. In this case, melanoma develops.

Usually the pathological process captures both organs of vision at once.

Retinal damage occurs as a result of genetic mutations that occur:

• autosomal dominant (passes from father to son, while manifestations of pathology are observed in the first generation);
• autosomal recessive (from both parents with manifestations in the second or third generation);
• by linkage along the X chromosome (pathology is transmitted to men who are relatives to each other on the mother's side).

Acquired retinal dystrophy is usually diagnosed in older people. This type of pathology occurs with severe intoxication, hypertension, thyroid pathologies.

Most often, manifestations of retinal abiotrophy first occur in childhood. It happens much less often in adulthood.

Varieties of pathology

According to the generally accepted classification, the following types of retinal dystrophy of the eye are distinguished:

• peripheral degenerations. Pathology of this type begins with the defeat of the rods of photoreceptors. Violations extend either to the retina and choroid, or to the vitreous body. Peripheral degenerations include pigmentary dystrophy, white dotted abiotrophy, Goldmann-Favre disease and Wagner's disease. With peripheral abiotrophy, a violation of peripheral vision occurs, a narrowing of the visual fields occurs. The disease can develop for many years or proceed quickly, causing a decrease in vision and complete blindness;
• central degeneration. Cone cells are damaged. Violations occur in the macula, macula. With central degenerations, a pronounced violation of visual function occurs, the ability to perceive colors is impaired. Blind spots may appear in the visual field. To macular degeneration of the retina include Stargardt's syndrome, Best's disease, age-related abiotrophy;
• generalized (mixed) degenerations. With this form of deviation, all parts of the retina are damaged. This is retinitis pigmentosa, congenital stationary night blindness.

Depending on what form of pathology is diagnosed in a patient, certain signs predominate.

Characteristics of pigmentary dystrophy

Pigmented retinal abiotrophy (primary tapetoretinal retinal abiotrophy) is a disease of the inner lining of the eye, in which retinal rods are affected. This disease is characterized by the degeneration of photoreceptors and pigment epithelium, resulting in the termination of signal transmission from the retina to the cerebral cortex.

Pigmented retinal abiotrophy is hereditary.

Tapetoretinal abiotrophy is hereditary. A distinctive feature of this form of retinal degeneration is a long progressive course with alternating visual impairment and remissions. Usually, if pigmentary dystrophy manifests itself in adolescence, then by the age of 20-25 the patient loses his sight, which leads to disability.

The prevalence of pathology is 1 case of the disease per 5000 people.

The reasons for the development of pathology have not been reliably studied, but most scientists are inclined to believe that it arises as a result of genetic mutations. Other possible factors contributing to the development of retinal dystrophy are:

• severe toxic damage to the body;
• diseases of the endocrine system;
• avitaminosis.

This form of deviation is characterized by the following manifestations:

• disorientation in the dark, associated with visual impairment;
• the formation of pigment in the fundus;
• narrowing of the boundaries of peripheral vision;
• headache;
• severe eye fatigue;
• light flashes in the eyes;
• difficulty in differentiating colors.

Tapetoretinal abiotrophy can be detected using the following diagnostic measures:

• ophthalmoscopy (examination of the fundus of the eye);
• study of visual functions;
• Ultrasound of the internal structures of the organs of vision;
• measurement of intraocular pressure;
• angiography.

Ophthalmoscopy helps to identify tapetoretinal abiotrophy.

Treatment of pathology provides for a specific approach. Required:

• the use of drugs to stimulate the nutrition and blood supply of the retina ("Mildronate" in the form of injections, drops "Taufon");
• carrying out physiotherapeutic procedures (ozone treatment, electrical stimulation);
• surgical treatment. In order to stimulate blood flow in the area of ​​the retina, an operation is performed to transplant the eye muscles.

Also in ophthalmology, the domestic remedy Alloplant is used to treat retinal degenerations. This is a biological tissue that strengthens the sclera. With abiotrophy, the agent is used to restore vascular blood supply. The fabric is characterized by good survival.

White dot (non-pigmented) degeneration

Non-pigmented abiotrophy, like pigmented abiotrophy, develops slowly and is of a genetic nature. The main feature of this form of pathology is the appearance of white, small foci on the periphery of the fundus. This is a type of tapetoretinal retinal degeneration.

The main factor provoking the development of pathology is gene mutations.

The characteristic manifestations of the pathology are as follows:

• narrowing of the field of view;
• progressive deterioration of central vision;
• the appearance of white dots over the entire area of ​​\u200b\u200bthe retina.

With white dotted abiotrophy of the retina, the optic nerve atrophies.

Pigmentless abiotrophy is genetic in nature.

Pathology is detected during such manipulations as:

• Ultrasound of the internal structures of the eyes;
• optical coherence tomography for layer-by-layer study of eye structures;
• fundus examination;
• study of the state of the visual fields.

With non-pigmented retinal dystrophy, the patient is prescribed:

• taking anticoagulants, vasodilators, vitamin B;
• intradermal administration of the hormone of the middle lobe of the pituitary gland to stimulate the activity of still preserved cones and rods;
• surgery.

The effect of therapeutic measures is usually temporary.

Stargardt disease

Yellow-spotted retinal abiotrophy is a condition in which central vision deteriorates at an accelerated rate.

The main reason for the development of pathology is genetic mutations. Gene defects create an energy deficit.

Stargardt's dystrophy manifests itself in the following symptoms:

• the inability of the patient to distinguish objects with a weak color gamut;
• loss of central vision and a decrease in its sharpness;
• the appearance of yellow-white spots in the posterior pole of the eyes;
• Difficulty with orientation in low light.

In the final stage of the disease, the optic nerve atrophies, causing blindness.

Yellow-spotted retinal abiotrophy is also called Stargardt's disease.

For the diagnosis of pathology is carried out:

• collection of anamnesis;
• molecular genetic analysis;
• histological examination in the central zone of the fundus.

For the treatment of Stargardt's disease, therapy is carried out with the introduction of vasodilators, taking vitamins. Physiotherapeutic procedures are shown - laser stimulation, ultrasound therapy.

With Stargardt's dystrophy, a stem cell treatment technique is used. Stem cells implanted in the eye move to the damaged area and merge with the affected tissues, after which they turn into healthy cells. A simple lens is usually used to fix the graft. This method is considered a breakthrough in modern ophthalmology.

Abiotrophy of the retina Besta

What is Best retinal abiotrophy? A similar pathology is a bilateral retinal dystrophy in the macular zone. It develops as a result of gene mutations.

Best's disease develops asymptomatically, so it is usually detected incidentally.

In the course of diagnostic measures, such symptoms of pathology as the appearance of yellow spots in the macula and the development of subretinal hemorrhages are determined.

The main diagnostic method is fluorescein angiography.

In case of Best's disease, maintenance therapy is carried out with the use of Mildronate, Emaxipin, Meksmdol.

If necessary, laser photocoagulation is performed.

Fluorescent angiography helps to diagnose Best's retinal abiotrophy.

congenital stationary blindness

This form of pathology is a non-progressive disease in which night vision is impaired.

The disease develops as a result of gene mutations.

The general visual acuity does not change. During the examination of the fundus, multiple yellow-white dots are found.

For the diagnosis of pathology, a study of the visual field, electroretinography, electrooculography is carried out.

There is no effective treatment for this disease.

Likely outcome

The prognosis is directly related to the type of pathology. Forms of the disease (except congenital stationary blindness) are constantly evolving and eventually cause loss of vision. The consequence of this is the disability of the patient.

The goal of the treatment is to alleviate the symptoms of pathology and slow down the pathological process.

Prevention

Since retinal degeneration is caused by gene mutations, there are no effective measures to prevent pathology.

• regularly visit an ophthalmologist;
• correct visual acuity with the help of physiotherapy procedures and medicines;
• lead a healthy lifestyle;
• dose the load exerted on the organs of vision;
• protect eyes from direct sunlight;
• eat rationally;
• perform sets of exercises aimed at working out the eye muscles and eliminating fatigue of the organs of vision;
• to refuse from bad habits.

The appearance of the first with visual impairment requires urgent medical attention. You should not rely on traditional methods of treatment: in the case of retinal abiotrophy, they will only aggravate the process and accelerate the development of blindness.

Nov 20, 2017 Anastasia Tabalina

Stargardt's macular degeneration(Stargardt's macular dystrophy, STGD) - the most common hereditary macular degeneration, its occurrence is 1 in 10,000; the disease is inherited in an autosomal recessive manner. Most cases manifest with a decrease in central vision at the beginning of the second decade of life. Macular atrophy usually develops with yellow-white flaky deposits at the level of the retinal pigment epithelium (RPE) in the posterior pole of the eye.

Deposits may be round, oval, lunate, or fish-like (pisciform). The oval zone of macular atrophy in the early stages may look like "forged bronze". However, flaky deposits may be absent early in the disease, and macular atrophy may be the only abnormality; but, as a rule, deposits appear later. A yellow-spotted fundus (fundus flavimaculatus, FFM) pattern develops with the appearance of flaky deposits in the absence of macular atrophy.

AND yellow-spotted fundus are caused by mutations of the same gene; both types of changes can be seen in the same family. Most patients with yellow-spotted fundus subsequently develop macular atrophy.

And at Stargardt's disease, and at yellow-spotted fundus on fluorescein angiography, a dark or occult choroid is classically observed in the early phase. This is due to excessive accumulation of lipofuscin by the retinal pigment epithelium, as a result of which the fluorescence of the choroid capillaries is screened. Flocculent retinal deposits in the early stages of their development on FA appear hypofluorescent, but later they become hyperfluorescent due to atrophy of the retinal pigment epithelium.

In order to confirm the diagnosis, as an alternative to FAG, an autofluorescence study is performed, which is based on fixing the fluorescence of lipofuscin of the retinal pigment epithelium. Abnormal accumulation of lipofuscin, the presence of active and resorbable flocculent deposits, and RPE atrophy are characteristic features detected by autofluorescence studies. In children with visual impairment due to macular dysfunction and the absence of changes in the fundus, FAG is still informative; an inconspicuous fenestrated defect in the center of the macular zone or a dark choroid help confirm the diagnosis.

At optical coherence tomography(OCT) often reveals a loss or a pronounced violation of the architectonics of the outer layers of the retina of the central zone of the macular region, with the relative preservation of the structure of the peripheral zone of the macula.

Yellow-white flaky deposits at the level of the retinal pigment epithelium of the posterior pole.
Early onset macular atrophy.

b) electrophysiology. Electrophysiological changes in Stargardt's disease are variable. An abnormal electrooculogram (EOG) is often recorded, which indicates a generalized dysfunction of the retinal pigment epithelium. The pattern electroretinogram (PERG) and focal electroretinogram are usually faded or markedly reduced in amplitude, suggesting macular dysfunction. Ganzfeld-ERG at the time of diagnosis may not be changed (group 1) or indicate extensive retinal damage (groups 2 and 3):
Group 1: severe pattern ERG abnormalities with normal ganzfeld ERG.
Group 2; additionally generalized cone dysfunction.
Group 3: generalized dysfunction of cones and rods.

These groups do not depend on the age of the onset of the disease or its duration; electrophysiological groups may represent different phenotypic subtypes and therefore may be informative in making a prognosis. Patients of the first group have higher visual acuity, more limited areas of distribution of flocculent deposits and macular atrophy; in patients of the third group, there is a more severe decrease in visual acuity, a larger area of ​​distribution of flocculent deposits and total macular atrophy.

V) Molecular genetics and pathogenesis. The pathogenesis of Stargardt's disease / yellow-spotted fundus is based on mutations in the ABCA4 gene, which also cause the development of retinitis pigmentosa and cone-rod dystrophy. ABCA4 encodes a transmembrane rim protein of the disks of the outer segments of the rods and cones, which is involved in the transport of retinoids from the photoreceptor to the retinal pigment epithelium. A defect in this transport leads to accumulation of the lipofuscin fluorophore, A2E (N-retinylidene-N-retnylethanolamine) in the retinal pigment epithelium, which causes its death and leads to secondary photoreceptor degeneration.

More than 500 variants of the ABCA4 sequence have been described, demonstrating high allelic heterogeneity; as a result, the identification of the pathogenic sequence of such a huge (50 exons) polymorphic gene causes considerable difficulties. It can be safely predicted that nonsense mutations that have a pronounced effect on the encoded protein will be pathogenic. When analyzing missense mutations, great difficulties arise, since such sequence variants often occur in control samples; as a result, confirming the pathogenicity of the identified mutation can be very problematic.

Direct confirmation of pathogenicity can only be obtained by functional analysis of the protein encoded by the mutant gene. In Stargardt's disease, a mutation in the ABCA4 Gly-1961Glu gene is most often detected; the Ala1038Val mutation is also common.

It is often possible to establish a correlation between the type and combination of ABCA4 mutations and the severity of phenotypic manifestations. For example, biallelic null mutations usually cause a cone-rod dystrophy phenotype rather than Stargardt disease. The variability of phenotypic changes in the retina is explained by different combinations of ABCA4 mutations that occur within the same family; it is likely that additional modifier genes or environmental factors also influence intrafamilial variability.

Accumulation of lipofuscin metabolic products, including A2E, is observed in Stargardt's disease and in ABCA4 knockout mice (abca4-/-); this leads to the formation of free radicals, the release of pro-apoptotic mitochondrial proteins, and lysosome dysfunction. As a result, dysfunction and death of retinal pigment epithelium cells develops, leading to the death of photoreceptors.

A2E synthesis is slowed down when abca4-/-- mice are placed in complete darkness and accelerated when vitamin A is added to their food. It seems reasonable to recommend that patients with Stargardt's disease avoid additional vitamin A intake and use dark sunglasses with ultraviolet filters. We also recommend a diet rich in antioxidants that slowed photoreceptor death in animal models of retinal dystrophies. Sick children may need help with low vision and educational support.

The risk of having a sick child in a patient is 1% (this probability increases if the patient's partner is his close relative). The carrier frequency of Stargardt's disease is 1 in 50; The chance that a partner is an asymptomatic carrier of a pathogenic altered ABCA4 gene sequence is 1 in 50.

G) Promising areas of therapy. New therapeutic approaches for the treatment of Stargardt's disease include drugs that act on the ATP-dependent transport mechanism, and thus accelerate ABCA4-dependent retinoid transport, or slow down the visual cycle, reducing the production of A2E. It may be more effective to directly inhibit the toxic effects of A2E. Pharmaceuticals have been developed that act in each of these three areas; it is likely that human clinical trials will be conducted in the near future. Similar drugs may be effective in the treatment of other macular degenerations accompanied by the accumulation of lipofuscin, such as Best's disease.

Other avenues of therapy include gene supplementation, cell therapy, or stem cell therapies aimed at boosting growth factors or transplanting retinal pigment epithelial cells/photoreceptors, respectively. Cell therapy/stem cell clinical trials are likely to take place soon.

Fluorescent angiogram; "dark choroid" and leak points are visible.
For comparison, a photograph of the fundus is shown above.

A characteristic picture in the study of autofluorescence of the fundus, an abnormal accumulation of lipofuscin is seen,
active and resorbable flocculent deposits and RPE atrophy.
For comparison, a photograph of the fundus is shown (top).
Stargardt disease. Spectral optical coherence tomography (spectral domain optical coherence tomography - SD-OCT),
there is a loss of the architectonics of the outer layers of the retina of the central zone of the macular area, while the structure of the retina of the peripheral zones of the macula is relatively preserved.
In the zone of the central fossa, destruction of the outer layers of the retina is visible.

Stargardt disease- This is a hereditary disease in which the retina of the eye is affected and blindness gradually develops.

Today, three genes are known to have mutations associated with this disease: ABCA4 (type I disease), ELOVL4 (type II), and PROM1 (type III). The most common mutations are in the first gene. In general, the prevalence of the disease is estimated at 1 case per 10 thousand. At the same time, up to 40% of the population of Northern Europe are carriers of a mutation in the ABCA4 gene, in southern countries this is less common.

Stargardt's disease is inherited in an autosomal recessive manner: if both parents are carriers of mutations, a child can be born with this pathology with a probability of 25%.

Genetic mutations lead to defective cell function, due to which lipofuscin (toxic pigment) accumulates in the cells, and the process of restoring the main visual pigment is disrupted.

Stargardt's disease does not affect other organs and systems and usually develops between the ages of 6 and 20. There is no effective treatment yet, but clinical trials are underway and have already shown encouraging results.

Diagnostics

• Genetic testing of parents at the stage of family planning is the most effective method of preventing this disease in a child. If both parents are carriers of the mutation, then the probability of having a child with the disease is 25%. Genetic tests can be done only for this disease or in combination with other hereditary ones. For research, blood or saliva is usually taken, and the results are ready in a few weeks. If both parents are carriers of the mutation, consultation with a geneticist is recommended.
• prenatal screening. Usually, mutations associated with Stargardt's disease are not included in this diagnostic method, since they do not affect fetal development and early development in any way. However, if there were cases of blindness in the family and for some reason genetic testing was not done at the stage of planning a child, these indicators can be included in prenatal screening: the sooner prevention begins, the longer vision can be preserved.
• Optical coherence tomography (OCT). This is one of the most informative methods for doctors who specialize in diseases of the retina. The method is a high-precision retinal scan based on the reflection of infrared radiation. As a result, the doctor receives an objective image of the state of the retina. This helps to determine the extent and nature of the lesion and subsequently track the dynamics of changes.
• Molecular genetic diagnostics. Genetic analysis for suspected Stargardt's disease is necessary to confirm the diagnosis. If there were no cases of the disease in the family, and a mutation is found, then it should be double-checked by direct sequencing - this is a more accurate method of completely reading the gene that contains the mutation.
• Registration of autofluorescence. The method is based on the fact that foci of lipofuscin, which accumulates in the tissues of the retina, become clearly visible under the influence of a certain type of laser. This method allows you to get an objective picture of retinal damage and track the dynamics of the disease. According to experts, the method can successfully replace fluorescein angiography of the retina.
• Electrophysiological examination of the eyes (EPI, ERG). The technique allows to evaluate the functionality of retinal cells. While OCT checks the structural integrity of the retina, EPS is necessary to assess function, as the structural picture may be satisfactory and the cells may not work properly.
• Fluorescent angiography of the retina. This examination is necessary with a confirmed diagnosis to assess the degree of damage to the retina. A special contrast agent is injected into the vein, which “highlights” the affected vessels when viewed on the apparatus.

Symptoms

In the first years of a child's life, Stargardt's disease does not manifest itself in any way.

Vision complaints can appear from the age of 6, the child may complain of blurring, color distortion and blurred vision in poor lighting.

The main symptom is a gradual decrease in vision in two eyes at once.

If there is a history of Stargardt's disease or blindness in the family, any sign of visual impairment should be investigated as early as possible.

A distinctive symptom of Stargardt's dystrophy is the deterioration of central vision while maintaining (in most cases) peripheral vision. But in some cases, peripheral vision is also seriously affected, due to the severity of the mutations.

Treatment

Today, a complete cure is not yet possible. Patients diagnosed with Stargardt's dystrophy receive supportive care that aims to slow the progression of the disease.

In some cases, your doctor may prescribe taurine injections under the eyeballs and physical therapy, such as low-energy infrared laser stimulation.

At the same time, scientists are actively developing a stem cell-based drug that can remove lipofuscin from retinal cells.

In recent years, methods of gene therapy for this disease have also been actively investigated. Gene therapy is based on the use of special virus vectors that introduce a healthy version of the ABCA4 gene into retinal cells, which slows down the accumulation of toxic lipofuscin. The technique is being researched by Oxford Biomedica and is currently in Phase 1 clinical trials. It is important to understand that this method does not use any malicious viruses, but, on the contrary, a useful feature of viruses to effectively integrate into the genome.

Another treatment that is currently undergoing clinical trials is based on the use of a modified vitamin A. Drugs based on it can slow down the metabolism in the retina and, as a result, reduce the accumulation of toxic substances.

The method of transplantation of the retinal pigment epithelium is also at the testing stage.

All of these techniques have successfully passed the first phases of testing. It is likely that they will be approved in the coming years.

How to live with it

Modern medicine has sufficient means for diagnosing Stargardt's disease and supporting therapy.

It is important to understand that a person with such a diagnosis does not lose sight at the same time and suddenly, it happens gradually. Therefore, it is necessary to slow down this process as much as possible, using all available means: from wearing glasses with UV protection to following the individual prescriptions of the attending physician.

In 2017, the order of the Ministry of Labor and Social Protection of the Russian Federation dated June 13, 2017 No. 486n “On approval of the Procedure for the development and implementation of an individual rehabilitation or habilitation program for a disabled person, a disabled child, issued by federal state institutions of medical and social expertise, and their forms” was issued , according to which you can get special magnifying devices for hereditary retinal dystrophy: a manual or stationary video magnifier, an audiobook reader, a magnifying glass with illumination. To get into this program, you need to get a doctor's referral from the Bureau of Medical and Social Expertise and pass a commission.

Useful sites

• http://looktosee.ru/- Interregional public organization "To see!" (information support and assistance to patients with hereditary retinal dystrophy and their families)
• www.clinicaltrials.gov - a database of private and public clinical trials conducted around the world
• www.centerwatch.com - database of privately funded clinical trials

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5.7. The donor can issue a regular (monthly) donation debit from a bank card.
The order is considered executed from the moment of the first successful withdrawal of the donation from the bank card.
The order for regular debiting is valid until the expiration of the cardholder's card or until the Benefactor submits a written notice of termination of the order. The notification must be sent to the email address info@website at least 10 days before the date of the next automatic charge. The notification must contain the following data: surname and name, as indicated on the bank card; the last four digits of the card from which the payment was made; e-mail 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 the statutory activities.
6.2. The Donor gives permission for the processing and storage of personal data used by the Beneficiary solely for the performance of the specified agreement, as well as for informing the activities of the Beneficiary.
6.3. Consent to the processing of personal data is given to the Benefactor for an indefinite period. In the event of withdrawal of consent, the Beneficiary undertakes to destroy or depersonalize the personal data of the Benefactor within 5 (five) business days.
6.4. The Beneficiary undertakes not to disclose to third parties the personal and contact information of the Benefactor without his written consent, except when this information is required by state bodies 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 relevant programs, the statutory goals of the Beneficiary.
6.6. At the request of the Donor (in the form of an electronic 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, except for the obligations specified in this Agreement.

7. Other terms

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 the 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 Assistance and Assistance to Patients with Hereditary Retinal Diseases "To See!"

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

PSRN 1167700058283
TIN 7713416237
Gearbox 771301001