Characterized by a yellow-spotted fundus, called yellow-spot dystrophy, is an abnormality of the retinal zone. It originates from the pigment epithelium and is expressed on both sides in age period 10-20 years.
The disease was explained by K. Stargardt at the very beginning of the 20th century as an ailment of the macular zone, which is inherited.
It is characterized by an ophthalmoscopic picture with signs of polymorphism: “broken bronze”, “bull’s eye”, choroidal dystrophy and so on.
Using a method of identifying a gene based only on its location in the genome, the main locus of a gene called ABCR, which determines Stargardt disease and is expressed in light-sensitive sensory neurons retina. In the case of an autosomal dominant type of heredity of the disease, the location of defective genes on chromosomes 13q and 6q14 has been determined.
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Symptoms and diagnosis of Stargardt disease
Results genetic study held in Lately, suggest that, despite differences in the totality of disease manifestations, retinitis pigmentosa, Stargardt disease, yellow-spot fundus and age-dependent molecular destruction are provoked by allelic abnormalities of the ABCR locus.
The bull's eye anomaly is ophthalmoscopically defined by a dark spot in the center, around which there is a wide ring of hypopigmentation - behind this, as a rule, there is a ring of superpigmentation. On FA, in the case of a simple anomaly, areas without fluorescence or with hypofluorescence with noticeable choriocapillaris are determined against the background of an area without deviations. From a structural point of view, it is characterized by an increase in the proportion of dye in the center of the fundus, atrophy of the adjacent retinal pigment tissue and an increase in pigment tissue. The deprivation of fluorescence in the macular zone is caused by the accumulation of lipofuscin in the retinal pigment epithelium, which is a screen for fluorescein. At the same time, the glycolipoprotein lipofuscin reduces the oxidative property of lysosomes and increases the pH of retinal pigment epithelial tissues, which leads to the loss of their membrane integrity.
Sometimes a rare type of yellow-spotted dystrophy is diagnosed, which does not have abnormalities in the macular zone. With this form of the disease, a large number of spots are observed between the macula and the equator yellowish color various forms, the location of which can be quite different - they can be combined or be separate. Over time, their color, shape and size may vary; the picture on FA may change: zones with hyperfluorescence are transformed into zones with hypofluorescence, which indicates a decrease in retinal pigment tissue.
All patients suffering from Stargardt's disease are diagnosed with partial or complete central scotomas different sizes, the type of which depends on the process. In the case of yellow-spotted dystrophy, the visual field may have normal indicators provided there are no deviations in the macular zone.
In most patients, it is recorded as in deuteranopia, red-green dichromasia, but there may be more pronounced forms. If yellowspot anomaly is present, color differences may be ok.
The contrast sensitivity of space in Stargardt disease has large deviations throughout the entire frequency range with a significant decrease in the area of medium and absolute deprivation in the area of large wave values - a pattern of cone dysfunction. Contrast sensitivity in the center of the retina within 6-10 degrees is not observed.
At the initial stages of Stargardt disease and yellow spot anomaly, electroretinography and electrooculography are normal. At more complex stages, cone components decrease on electroretinography, and on electrooculography they are slightly below normal. Local electroretinography gives unsatisfactory results already in the early stages of the disease and becomes unfixable during the development of the disease.
A diagnostic method that excludes all sorts of factors unusual for the disease must be carried out with the predominant developing anomaly of the cavity macular spot retina located in the center, cone, cone-rod and rod-cone anomalies, X-linked retinoschisis, vitelliform macular anomaly, drug-induced abnormalities, in case of acute intoxication during pregnancy.
Stargardt disease is one of the most common central hereditary macular dystrophies and accounts for up to 7% of all retinal dystrophies. Despite the clinical and ophthalmoscopic criteria for Stargardt disease and other hereditary retinal dystrophies clearly described in the literature, often the same disease is described by different doctors under different names or, on the contrary, very distant forms are combined into a single concept. The authors examined 32 patients (64 eyes) with a presumed diagnosis of Stargardt disease. During differential diagnosis, the diagnosis was confirmed in 31.3% of cases.
Modern possibilities of differential diagnosis of the disease Stargardt
Disease Shtargardt is one of the most common hereditary central macular dystrophy and up to 7% of all retinal dystrophies. Despite the well-described in the literature clinical and ophthalmoscopic criteria Shtargardt`s disease and other hereditary retinal dystrophies, often one and the same disease described by different doctors with different names or, alternatively, combined into a single concept of a very distant form. The authors examined 32 patients (64 eyes) with presumed diagnosis of the disease Shtargardt. In the differential diagnosis of the diagnosis was confirmed in 31.3% of cases.
Hereditary retinal abiotrophies are characterized by clinical polymorphism and genetic heterogeneity. Currently, about 50 clinical phenotypes of hereditary retinal abiotrophies, represented by more than 100 genetic variants, have been described. Problem early diagnosis hereditary dystrophies has been and remains relevant in medical and social relations. This is due to the fact that hereditary retinal dystrophies, even with timely detection and adequate treatment, lead early to low vision, and, as a consequence, difficulties arise in the self-care of patients and their social adaptation.
Stargardt disease (SD) is one of the most common central hereditary macular dystrophies and accounts for up to 7% of all retinal dystrophies. BS is usually diagnosed in the first or second decade of life. The disease debuts with a decrease in central visual acuity, the presence of absolute or relative central scotoma, impairment color vision. There is a gradual decrease in frequency and amplitude parameters of photopic electroretinography (ERG) against the background of preserved scotopic ERG components. Clinically, BS is characterized by the development of atrophy of the photoreceptor layer and retinal pigment epithelium (RPE) in the macular area with a characteristic metallic sheen, absence of macular and foveal reflexes (Fig. 1).
Figure 1. Fundus of the left eye of patient Sh., 17 years old. Left eye. OU diagnosis: Stargardt disease. Vision 0.8 n/k. Weakening of the physiological reflex in the macular area. The changes are symmetrical in both eyes. During a molecular genetic study of DNA samples, the Gly1961Glu mutation was found in a compound heterozygous state
In the literature, the terms BS are often combined and fundus flavimaculatus (FF), thereby emphasizing the supposed unity of origin. Just like BS, FF is diagnosed in the first or second decade of life. There are disturbances in color vision, mainly due to green and red colors; perimetry shows relative and absolute scotomas in the projection of the posterior pole of the retina. The ERG records a decrease in the amplitude of the b wave of the global ERG, the frequency of the rhythmic ERG is reduced by 2-3 times, the amplitude indicators of the local ERG for red are absent, and for blue and green they are reduced. Characteristic ophthalmoscopic signs of FF are decoloration of the optic discs on the temporal side, slight narrowing of the arteries, macular and foveal reflexes are slightly deformed, the macula is flat, the fovea is poorly differentiated, “metallic shine”, redistribution of pigment, white or yellowish-white deep defects of the pigment epithelium of the posterior pole - “spots” that differ within the same fundus in shape, size, opacity, density, and sometimes in apparent depth. Among the various geometric shapes, round or linear ones predominated.
BS is characterized by an autosomal recessive type of inheritance, although a more rare autosomal dominant type, which does not have specific phenotypic manifestations, has also been described.
Table 1.
Genetic variants of Stargardt disease
| Inheritance type | ||
| AR* |
ABCA4 |
|
| AR |
CNGB3 |
|
| HELL** |
ELOVL4 |
|
| HELL |
Note: AR* is an autosomal recessive type of inheritance. AD** - autosomal dominant type of inheritance
A significant role in ensuring early diagnosis of BS is played by molecular genetic analysis aimed at searching for mutations in already known genes. It has been established that mutations in the ABCA4 gene are the cause of the development of four clinically polymorphic retinal abiotrophies: BS, FF, mixed pigmentary and central pigmentary retinal abiotrophy.
Despite the clinical and ophthalmoscopic criteria for certain hereditary retinal dystrophies clearly described in the literature, often the same disease is described by different doctors under different names or, on the contrary, very distant forms are combined into a single concept.
Error in diagnosing BS is a fairly common occurrence in outpatient settings. According to some authors, out of 40 patients examined over one year, the diagnosis of BS was questioned in 12 (30%).
Recent advances in image processing based on new technologies such as optical coherence tomography (OCT) make it possible to identify previously unidentified structures. High-resolution OCT allows, in vivo, to differentiate the state of the retinal layers and detect microstructural changes (Fig. 2).
Figure 2. Optical coherence tomography of the left eye of patient Sh., 17 years old. OU diagnosis: Stargardt disease. Vision 0.8 n/k. In the fovea region there is a defect in the outer segments of photoreceptors. Sharp thinning of the photoreceptor layer. Parafoveal thinning of the retina. Changes are symmetrical in both eyes
In addition to qualitative analysis, OCT allows for a quantitative assessment of the thickness of the fovea in patients with BS. But the analysis of RPE cells in vivo was until some time impossible. Today, autofluorescence (AF) detection provides in vivo information about the level and distribution of lipofuscin granules (LG) in RPE cells. It is known that PH accumulates both with age and in various hereditary and degenerative diseases of the retina (Fig. 3).
Figure 3. Registration of autofluorescence in the left eye of patient Sh., 17 years old. OU diagnosis: Stargardt disease. Vision 0.8 n/k. Reduced physiological hypoautofluorescence in the macular area. Diffusely scattered areas of hyperautofluorescence in the macular area, indicating the accumulation of LH in RPE cells. Changes are symmetrical in both eyes
The value of diagnostics, as is known, lies in recognizing the disease in the most early stage. For example, in the presence of signs of central retinal degeneration, a diagnosis of BS is often made, while similar clinical manifestations are characteristic of a number of other monogenic diseases. hereditary diseases retina, such as cone degeneration and initial stage development of cone-rod degeneration.
Clinical picture diseases in comparison with research results and molecular genetic analysis help to make a correct diagnosis.
Target. Analysis of the spectrum of nosological forms of central retinal dystrophies in patients diagnosed with BS upon referral, assessment of the diagnostic value of the complex modern research, including high-tech ones.
Materials and methods. 32 patients (64 eyes) were examined, including 19 women and 13 men, with a presumptive diagnosis of Stargardt disease. 27 families had single cases of the disease, in one family there were 2 affected siblings, and one family with an autosomal dominant form in two generations. By national composition The study group consisted of Russians (79%), Chechens (9%), Lezgins (3%), Armenians (3%), and Gypsies (3%). The minimum age of the patient at the time of examination is 7 years, the maximum is 52 years. All patients underwent a complex of clinical and molecular genetic studies. Clinical studies included visometry, static perimetry, color vision tests (Rabkin polychromatic tables), electrophysiological studies on international standard, including registration of photopic and scotopic ERG, mixed, flickering ERG at 30 Hz (RETI-port/scan 21, Roland Consult, Germany). Additionally, optical coherence tomography (Cirrus HD-OCT 4000, Carl Zeiss Meditec Inc. Dublin, USA), fluorescein angiography and autofluorescence recording on a retinal angiograph HRA-2 (Heidelberg, Germany) were performed. All patients underwent a molecular genetic study of DNA samples to search for the three most common mutations Gly863Ala, Ala1038Val, Gly1961Glu in the ABCA4 gene.
Results and discussion
According to the results of our studies, all patients were divided into 3 groups. The first group included patients (n=10, 31.3%) with a confirmed diagnosis of BS. The second group (n=10, 31.3%) consisted of patients who, according to the results clinical trials FF was diagnosed. The third group (n=12, 37.5%) included patients with other clinical diagnoses.
Those examined in group I had a typical ophthalmoscopic picture of BS. According to the anamnesis, the disease manifested itself with a decrease in central visual acuity at an average age of 14.5 years (5-25 years). At the time of examination, visual acuity was 0.25 (0.02-0.8). All were found to have color vision impairments for red and green colors. In 9 cases, an absolute central scotoma of up to 10º was recorded. Normal mixed ERG was recorded in 7 patients (14 eyes), subnormal - in 3 (6 eyes). All patients had a normal scotopic ERG. All patients showed a decrease in retinal thickness in the foveal area, which amounted to 129±31.2 µm. When recording autofluorescence in all patients, a decrease in physiological hypoautofluorescence in the macular region was recorded, with a simultaneous increase in pathological, which, as a rule, has the shape of an elongated oval. When assessing the area of pathological hypoautofluorescence, it averaged 1.91 mm² (from 0.36 to 5.43 mm²). In group I of 10 patients, mutations in the ABCA4 gene were found in 5. Gly1961Glu in a compound heterozygous state in 4 patients, Ala1038Val in a homozygous state in one patient.
Those examined in group II had a typical ophthalmoscopic picture of FF. According to the anamnesis, in all patients the disease manifested itself as a decrease in central visual acuity at an average age of 14.1 years (5-30 years). At the time of examination, visual acuity was 0.15 (0.03-0.4). All of them had color vision impairments for red and green colors. In cases, absolute central scotoma was recorded from 10º to 20. Mixed and scotopic ERGs were subnormal in all patients. All patients showed a decrease in retinal thickness in the foveal area, which amounted to 125±21.8 µm. When recording autofluorescence in all patients, a decrease in physiological hypoautofluorescence in the macular region was recorded, with a simultaneous increase in pathological, which, as a rule, has the shape of an elongated oval. When assessing the area of pathological hypoautofluorescence, it averaged 6.6 mm² (from 0.47 to 24.66 mm²). In group II of 10 patients, during a molecular genetic study of DNA samples, mutations were found in 8. All mutations were in the compound heterozygous state: Ala1038Val - in 4, Gly1961Glu - in 3, Gly863Ala - in one patient.
Group III included patients whose nosological spectrum of pathology is presented in Table 2.
Table 2.
Distribution of retinal disease phenotypes and mutations found in the examined patients
| Clinical diagnosis |
Total number of patients | Frequent mutations in the ABCA4 gene (number sick) |
| BS | ||
| FF | ||
| Mixed pigment abiotrophy | ||
| Juvenile retinoschisis | ||
| Central chorioretinal pigmentless bull's eye retinal abiotrophy | ||
| Yellow-spotted central butterfly dystrophy | ||
| Mixed yellow spot retinal abiotrophy | ||
| Mixed chorioretinal abiotrophy | ||
| Maculite unknown etiology, in remission (secondary macular degeneration) | ||
| Central pigment abiotrophy | ||
| TOTAL: |
IN III group out of 12 patients, 2 had the Ala1038Val mutation, in a compound heterozygous and homozygous state. It should be noted that both patients had a clinical picture of mixed retinal pigmentary abiotrophy. In the remaining 10 patients of the third group, the desired mutations were not detected.
conclusions
1. When carrying out differential diagnosis of BS with other hereditary and secondary lesions of the macular area using all required spectrum diagnostic equipment the diagnosis of BS was confirmed in only 31.3% of cases.
2. Optical coherence tomography and autofluorescence registration are a necessary and important addition to the standard complex diagnostic studies carried out during the diagnosis of BS, providing objective information about the level and nature of the pathological process in vivo.
S.A. Borzenok, M.F. Shurygina, O.V. Khlebnikova, V.A. Solomin
MNTK "Eye Microsurgery" named after. acad. S.N. Fedorov" Ministry of Health of the Russian Federation, Moscow
Medical-genetic science Center RAMS, Moscow
Shurygina Maria Fedorovna - graduate student of the MNTK "Eye Microsurgery" named after. S.N. Fedorov
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Stargardt disease type 1 (Stargardt disease, STGD) And retinal abiotrophy Franceschetti type (fundus flavimaculatus (FFM) or yellow-spotted fundus) belong to hereditary retinal abiotrophies - a heterogeneous group of hereditary diseases of the retina, caused by degenerative changes in the photoreceptor cells of the pigment epithelium and leading to a significant decrease in visual acuity. Stargardt disease is one of the most common hereditary dystrophies of the macular region of the retina.
STGD, which is a classic example of a central pigmentary degeneration retina, manifests itself in childhood and young age (7-20 years). The disease debuts with a decrease in the acuity of central vision, usually at the age of 7-9 years, then slowly progresses with the addition of gross disturbances in color perception of all colors. Changes in the fundus, although polymorphic, are characterized by the appearance in both eyes of pigmented round dots, areas of depigmentation and atrophy of the retinal pigment epithelium, often combined with whitish-yellowish spots in the paramacular zone. Changes in the form of yellowish-whitish dots and stripes with or without changes in the macular area were designated by A. Franceschetti as "fundus flavimaculatus"(retinal abiotrophy of the Franceschetti type). In the literature, the terms “Stargardt disease” and “fundus flavimaculatus” are often combined, thereby emphasizing the supposed unity of origin. Clinical manifestations STGD also include decreased visual acuity, loss of color vision, photophobia, paracentral scotoma, and poor adaptation to darkness. Histologically, the disease is characterized by excessive accumulation of lipofuscin-like substance in the retinal pigment epithelium, mainly in those areas that contain cone photoreceptors.
STGD and FFM are inherited in an autosomal recessive manner, when a child receives a gene with a mutation from both parents. The incidence of the disease is 1 case per 10,000 newborns.
One of genetic reasons leading to hereditary retinal abiotrophies is gene damage ABCA4 (АВСR).
ABCR is a specific protein of neurosensory cells of the retina, necessary for their normal functioning and vision. The ABCR gene is located in the chromosomal region 1p22.1-p21, consists of 50 exons, encodes 2273 amino acids and is ~150 kb in length.
To date, more than 400 different mutations in the ABCA4 gene are known, leading to hereditary retinal abiotrophies.
Mutations in the gene CNGB3 may lead to the development of type 1 Stargardt disease. The CNGB3 gene is located on the long arm of chromosome 8 (8q21.3) and consists of 18 exons. This gene encodes the beta 3 subunit of the G protein. G proteins are expressed in all cells of the body and play main role in the transmission of signals from multiple receptors on the cell surface. About 40 mutations have been described. Mutations in the CNGB3 gene also lead to the development of achromatopsia type 3.
Stargardt disease type 3 (Stargardt disease 3, STGD3) (OMIM 600110) has clinical manifestations similar to Stargardt disease type 1, but is inherited in an autosomal dominant manner, where one mutation is enough to cause the disease. Stargardt disease type 3 is caused by mutations in the gene ELOVL4, which is located on the long arm of chromosome 6 (6q14). It encodes the protein ELOVL4 (elongation of very long chain fatty acids-like 4), which is involved in the synthesis of saturated and unsaturated fatty acids with a very long chain. The ELOVL4 gene consists of 6 exons. Four mutations have been described, all of them localized in exon 6 of the ELOVL4 gene. The Center for Molecular Genetics is searching for mutations in “hot spots” (exon 6) of the ELOVL4 gene using direct automatic sequencing.
Stargardt disease provokes a degenerative process in the macula. There are many diseases whose clinical picture is similar to this pathology. They are caused by mutation of various genes. Therefore, the disease is classified as a hereditary pathology.
Main clinical manifestation The disease is a degenerative process in the macula, as well as central retinitis pigment, causing a decrease in vision with the development of a central scotoma.
Features of the disease
Stargardt disease is one of the rare but very severe pathologies. It manifests itself at a young age - from 6 to 20 years with a frequency of 1:20,000 people. In other age categories, pathology, as a rule, does not occur. The consequences of the disease are catastrophic. Complete loss of vision is possible.
The disease has a genetic basis. The dystrophic process affects the macular region and originates in the pigment epithelium, which leads to vision loss. The process is two-way.
Forms of pathology
There is a clear distinction between pathology into four types depending on the area of localization of the inflammation zone:
The degenerative process may be noted:
- in the middle peripheral zone;
- in the macular area;
- in the paracentral zone.
There is also a mixed form of the disease, which involves localization of inflammation in the central part of the eyes and in the periphery.
Mechanisms of disease development
The causes of the disease were described by the doctor K. Stargardt in the first half of the twentieth century. This disease is named after him. The pathology is attributed to the macular region and, according to the scientist, is inherited within the same family. Usually a polymorphic ophthalmoscopic picture is indicated, called “broken bronze atrophy”, etc.
Through positional cloning, the major gene locus that causes the most pronounced expression in photoreceptors was identified. In science it is called ABCR.
The basis of therapy is the use of stem cells from the adipose tissue of a sick person. Therapeutic method was developed earlier by scientist V.P. Filatov. Thanks to innovative technology, patients are given the opportunity to restore lost vision and enjoy a full life.
Dr. A. D. Romashchenko registered a complex of technologies in the field of biomedicine and patented the following methods:
- a combined method for eliminating the wet form of the disease;
- complex method of paitogenetic therapy of central and taperetinal dystrophy.
In which clinic is the treatment carried out?
Treats a complex disease ophthalmological center"He's a Clinician." The center is located in a city such as St. Petersburg. Stargardt disease can be treated only in this center, since it is the only one in Russia where such technology is used.
Is stem cell therapy safe?
Experts can confidently confirm that therapy using the technology developed by A.D. Romashchenko is absolutely safe. The patient's cells are used for therapy, which eliminates the possibility of their rejection or the development of other negative consequences.
Conclusion
Stargradt's disease begins at an early age and quickly leads to complete loss of vision. In very rare cases, when inherited according to a dominant type, vision declines at a slow rate. Patients are advised to visit an ophthalmologist, take vitamins and wear sunglasses. Stem cell therapy is considered the most effective way to eliminate pathology.
Stargardt's disease - dangerous disease, which occurs in medical practice quite rare. It can lead to complete loss of vision and is not always treatable. The pathology is popularly called bull's eye. It provokes the destruction of the central shell of the retina - the macula, in which light-sensitive cells are localized.
Stargardt disease develops in childhood. It is usually diagnosed in children 8-11 years old, and less often in adolescents.
Why does retinal pigmentary dystrophy occur - the cause of Stargardt disease?
Retinal degeneration in Stargardt disease is not caused by any external factors. This is a genetically determined disease that is absolutely independent of gender. At the same time, Stargardt's dystrophy is not always transmitted to the children of sick people.
Types of Stargardt disease
Depending on the location and extent of the area of retinal pigmentary degeneration, Stargardt disease is classified into three forms:
- Central. During ophthalmological examination It turns out that the cells located in the very center of the macula of the eye are damaged. The patient loses central vision. When looking at objects, he sees dark more spot in their middle.
- Pericentral. The disease affects cells that are located to the side of the central spot - above, below, to the right or left of the point of fixation. Subjectively, this manifests itself as follows: while looking at some image, a person notices that one of its sides falls out of his field of vision and looks like a black moon. Over the years, the affected area takes the form of a black circle.
- Mixed. Retinal pigment abiotrophy begins in the middle of the central visual spot and quickly shifts to one side. As a result, the eye becomes completely blind.
How does Stargardt disease manifest?
Stargardt's macular degeneration, as the disease described is also called, begins to make itself felt when the child turns 6 or 7 years old. The patient begins to complain of a black spot, which he sees when looking at any objects. It prevents him from looking at them. He sees bright objects of saturated colors better, pale, black and white objects - worse. It is also possible that the perception of the usual color scheme will change.
At first, the black spot is small in size, but as the disease progresses, its volume increases. This can lead to irreversible blindness and destruction of the optic nerve.
How quickly does Stargardt disease progress?
It is difficult to predict the course of the disease. It can progress slowly and then “freeze.” When the patient relaxes and believes that his vision will no longer deteriorate, Stargardt's disease can manifest itself with renewed vigor and in a few years cause the development of complete blindness.
According to statistics, by the age of 50, half of sick people have very poor vision - 20/200, while the norm is expressed as 20/20. As a result, it decreases to 20/400.
Since Stargardt's disease disrupts the functioning of the organs of vision, nerve tissues die, correct the situation with the help of glasses, contact lenses and even the methods of modern refractive surgery are impossible.
Diagnostic measures for Stargardt disease
Stargardt disease occurs in one in 20 thousand people, so not all ophthalmologists encounter it in their medical practice. To understand that the patient has this particular genetic disease, the doctor must conduct a comprehensive examination and competent differential diagnosis. It includes:
- Visometry - determination of visual acuity when a person looks into the distance (usually a special ophthalmological table with letters is used).
- Tonometry - measurement of intraocular pressure.
- Refractometry is an assessment of the optical power of the organ of vision.
- Study of color vision using special Rabkin ophthalmological tables.
- Perimetry is a technique for studying a patient’s peripheral vision.
- Electrooculography - recording the constant potential of the eye by applying special electrodes fixed directly to the lower eyelid area on both sides. The method makes it possible to identify abnormal changes in the pigmented epithelium of the retina and study photoreceptors.
- Ophthalmoscopy - examination of the fundus, blood vessels and retina.
- Electroretinography - an informative way to study functional state retina of the eye.
- Campimetry - determination of the central field of vision.
- Electrophysiological study - aimed at studying the functions of the retina, optic nerve, and assessing the condition of the cerebral cortex.
- Fluorescein angiography is a technique for studying the vessels that supply the retina.
- OTC (optical coherence tomography) is an optical coherence tomography used to detect diseases of the retina and optic nerve.
One of the main signs of the disease is its onset at the age of 6-8 years. The child complains to his parents about a black spot that he constantly sees. During the examination, the doctor discovers a spot of reduced pigmentation with a dark center in the eye. Around it are pigmented cells. Visually, it resembles the eye of a bull (hence the above-mentioned popular name).
In the macula zone there are yellowish or whitish spots of different sizes and shapes. Over time, the clear boundaries of these formations disappear - they become blurred and acquire a grayish tint. They can completely dissolve.
One should not think that with Stargardt's disease the patient always goes blind very quickly. The child can for a long time have good visual acuity and experience difficulties only due to poor adaptation to movement in the dark.
Conclusively confirm or deny preliminary diagnosis in case of retinal abiotrophy, molecular genetic examination can be used.
Treatment of Stargardt disease
It is impossible to eliminate the causative factors and thus avoid the development or progression of an ophthalmological disease. Usually, to improve the condition of patients and slow down the pathological process, patients are prescribed:
- Antioxidant drugs;
- Injections of the amino acid taurine;
- Vasodilator drops;
- Hormonal solutions;
- Vitamins (especially important A, B, C, E);
- Means to improve blood circulation.
Among the physiotherapeutic procedures, the ophthalmologist can prescribe electrophoresis using a number of drugs, laser stimulation of the retina, and ultrasound.
Radical methods of treating Stargardt disease
Today, modern techniques such as:
- Retinal revascularization;
- Autologous tissue therapy.
In the first case, the surgeon installs a bundle consisting of muscle fibers in the area of the affected macula. This saves for a while visual function, since the atrophied nerve is being replaced. But a transplant does not avoid blindness - over the years dark spot is getting wider.
As for autologous tissue therapy, this is a more modern technique. It involves the use of stem cells obtained from the patient's own adipose tissue. The technology was developed by Russian scientist V.P. Filatov. According to his theory, Stargardt disease must be treated at the cellular level.
This therapy is safe, since destroyed eye cells are replaced with new, healthy ones.
The risk of their rejection is minimal, since during the operation not donor material is used, but material obtained from the patient himself. It quickly takes root and restores the functions of the visual organs.
It is impossible to say that autologous tissue therapy provides a 100% guarantee of vision restoration. But today this is the only technique that resists well further development illness and helps improve visual acuity even when the patient sees the world around him very poorly.
