Stargardt's Disease: Description, Causes, Symptoms and Features of Treatment

Stargardt's disease provokes a degenerative process in the yellow spot. There are many diseases, the clinic of which is similar to this pathology. They are caused by a mutation of different genes. Therefore, the ailment is classified as a hereditary pathology.

The main clinical manifestation of the disease is the degenerative process in the yellow spot, as well as the central retinitis of the pigment, causing a drop in vision with the development of the central scotoma.

Features of the disease

Stargardt's disease is one of rare, but very serious pathologies. It manifests itself at a young age - from 6 to 20 years with a frequency of 1: 20,000 people. In another age category, pathology, as a rule, is not encountered. Consequences of the disease are catastrophic. A complete loss of vision is not excluded.

The disease has a genetic basis. The dystrophic process affects the macular area of the retina and originates in the area of the pigment epithelium, which leads to loss of vision. The process is two-sided.

Forms of pathology

There is a clear distinction of pathology into four types depending on the area of localization of the inflammation zone:

The degenerative process can be marked:

• In the middle peripheral zone;
• In the macular area;
• In the paracentral zone.

There is also a mixed form of the disease, which involves the localization of inflammation in the central part of the eyes and on the periphery.

Mechanisms of disease development

The causes of the disease are described by the doctor K. Stargardt in the first half of the twentieth century. In honor of him, this disease is named. Pathology is attributed to the macular area and, according to the scientist, is transmitted within the same family by inheritance. Usually, a polymorphous ophthalmoscopic picture called "atrophy of the choroid", "bull's eye", "broken bronze", etc., is designated.

By means of positional cloning, the main locus of the gene was identified, which causes pigmented retinitis, which is most clearly manifested in photoreceptors. In science, he received the name ABCR.

Eye disease is inherited in an autosomal dominant type. For pathology, localization of mutated genes in 13q and 6ql4 chromosomes is characteristic.

The genetic basis is not dependent on gender. According to the latest studies of geneticists, with the dominant type of transmission of the disease, it proceeds somewhat more easily and does not always lead to blindness. Most of the receptor cells continue to function. In such patients, the pathology proceeds with a minimum of symptoms. The sick are still working and able to drive vehicles.

How is Stargardt's disease developing? The causes of degeneration of macular cells lie in a lack of energy. A gene defect provokes the production of an inferior protein, which transmits ATP molecules through the cell membrane of the macula of the central part of the retina. It focuses the image of graphics and color.

Symptomatology of pathology

What are the characteristics of people with Stargardt's disease? When the disease develops, there is no pathology in other internal organs. The process affects only the eyes. The disease begins with loss of visual acuity. Subsequently, the symptomatology grows, and gross violations of the perception of color appear in the entire spectral range perceived by the vision.

Degenerative changes in the fundus are manifested in the following indices:

• In both eyes are marked pigmented points of a circular shape;
• There are localized areas devoid of pigmentation;
• There is an atrophic process in the pigment epithelium of the retina.

Such processes can occur in conjunction with the appearance of whitish-yellow spots. As the disease progresses, an increased accumulation of lipofuscin-like substance is revealed in the pigment epithelium of the retina.

In all patients affected by this pathology, absolute or partial central scotomas are identified, which have a different magnitude due to the prevalence of the process.

With a yellow-spotted form, the field of vision in a sick person can remain within normal limits, but the central vision decreases noticeably.

The majority of diseased people who underwent examination had a violation of color perception according to the type of deuteronopia, red-green dyschromasia. In the yellow-spotted dystrophic process, color vision may not be affected at all.

In Stargardt's dystrophy, the frequency of the spatial sensitivity of contrast is altered (in the range of 6-10 ° with a significant decrease in the region of medium spatial frequencies and a complete absence in the high frequency region). The syndrome was called "the pattern of cone dystrophy."

Symptoms include wavy vision of objects, blind spots, blurriness, color irregularity and difficulty of adaptation in the presence of dim illumination.

Diagnosis of the disease

As a result of the research at the genetic level, evidence is found that Stargardt's eye disease is determined by allelic disturbances of the ABCR locus.

Diagnosis begins with a study of the condition of the fundus. Fluorescent angiography of the retinal vessels is performed, as well as electrophysiological examination. In this case, it is required to determine the extent of the lesion. This makes it possible to identify a number of disease indicators, including hyperfluorescent foci and fluorescence of the optic nerve disc.

Since the disease has a hereditary nature, the most accurate way to determine it will be diagnostics at the DNA level, which is capable of revealing hereditary monomonogenic diseases.

Differentiated diagnostics

Stargardt's disease should be distinguished from cone-rod, cone, and rods-cone dystrophic process, dominant progressive foveal dystrophy, juvenile retinosis, macular degeneration of the vitelliform.

Also, differentiated diagnosis is indicated in the case of the presence of toxicosis in pregnancy acquired due to drug dystrophy (in particular, with chloroquine retinopathy).

Can Stargardt's disease be cured?

Aetiological therapy does not exist. How is Stargardt's disease resolved? Treatment of ancillary nature involves the use of parabulbar injections of taurine and antioxidants, the introduction of funds that dilate the blood vessels (pentoxifylline, nicotinic acid), as well as steroids.

It is treated with vitamins, which help strengthen the walls of blood vessels and improve blood circulation. Usually used vitamins B, A, C, E.

The physiotherapy procedures are shown. Among them, it is necessary to isolate electrophoresis with the use of drugs, as well as stimulation of the retina of the eyes by means of a laser.

It is used to revascularize the retina through a transplant from the zone of the yellow patch of muscle fibers.

Previously, ophthalmologists around the world believed that the disease could not be cured. The above therapy helped to only slightly delay the progression of pathology, but in no case prevent it.

As a rule, the treatment did not save people from a complete loss of vision. It was necessary to develop a different technique that would facilitate the restoration of damaged eye structures.

Innovative therapy

Is there an effective method of eliminating pathology such as Stargardt's disease at the moment? How to treat a serious ailment? The method was proposed in 2009 by Dr. Alexander Dmitrievich Romashchenko, who is the head of the ophthalmology center "ON Clinic" (St. Petersburg, Marata St., Building 69, Building B). He improved the treatment option for the disease, based on tissue cellular treatment.

The basis of therapy is the use of stem cells of adipose tissue of a person who has fallen ill. The therapeutic method was developed earlier by the scientist V.P. Filatov. Thanks to innovative technology, patients are given the opportunity to restore lost vision and ensure a full life.

Dr. Adam D. Romashchenko registered a complex of technologies in the field of biomedicine and patented the following methods of stem cell treatment :

• Combined method of eliminating the wet form of the disease;
• A comprehensive method for the pathogenetic therapy of central and taperotorhinal dystrophy.

Which clinic is used for treatment?

The ophthalmology center "He Clinic" is engaged in treatment of the most complicated disease. The center is located in a city like St. Petersburg. You can treat Stargardt's disease only in this center, since it is the only one in Russia where this technology is used.

Is stem cell therapy safe?

Specialists can confidently confirm that therapy using the technology developed by A. Romashchenko is absolutely safe. The patient's cells are used for therapy, which excludes the possibility of their rejection or development of other negative consequences.

Conclusion

Stardard's disease debuts at an early age and quickly leads to an absolute loss of vision. In very rare cases, with inheritance by the dominant type, vision falls at a slow pace. Patients are recommended to visit an ophthalmologist, take vitamins and wear sunglasses. The most effective way of eliminating pathology is considered therapy by means of stem cells.