Stargardt's disease provokes a degenerative process in the macula. There are many diseases, the clinic of which is similar to this pathology. They are caused by a mutation of various genes. Therefore, the disease is classified as hereditary pathologies.
The main clinical manifestation of the disease is a macular degeneration process, as well as central pigment retinitis, which causes a decrease in vision with the development of central scotoma.
Features of the disease
Stargardt's disease is one of the 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, does not occur. The consequences of the disease are catastrophic. Complete loss of vision is not ruled out.
The disease has a genetic basis. The dystrophic process affects the macular region of the retina and originates in the area of the pigment epithelium, which leads to loss of vision. The process is bilateral in nature.
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 may be noted:
- in the middle peripheral zone;
- in the macular region;
- 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.
The mechanisms of the development of the disease
The causes of the disease are described by a 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 region and, according to the scientist, is inherited within the same family. Usually, a polymorphic ophthalmoscopic picture is identified, called "atrophy of the choroid," "bull's eye", "broken bronze", etc.
Through positional cloning, the main locus of the gene that causes pigment retinitis, which is most pronounced in photoreceptors, has been identified. In science, it was called ABCR.
Eye disease is inherited in an autosomal dominant manner. Pathology is characterized by the localization of mutated genes in chromosomes 13q and 6ql4.
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 is somewhat easier and does not always lead to blindness. Most receptor cells continue to function. In such patients, the pathology proceeds with a minimum of symptoms. Patients remain operable and able to drive vehicles.
How does Stargardt's disease develop? The causes of macular cell degeneration lie in the lack of energy. A gene defect provokes the production of a defective protein, which transfers ATP molecules through the cell membrane of the macula lutea of the central part of the retina. It focuses the image of graphics and color.
Symptoms of pathology
What are the characteristics of people with stargardt disease? With the development of the disease, pathology in other internal organs is not noted. The process affects only the eyes. The disease begins with a loss of visual acuity. Subsequently, the symptoms increase, and gross violations of color perception appear in the entire spectral range perceived by vision.
Degenerative changes in the fundus are manifested in the following indicators:
- pigmented points of a round form are noted in both eyes;
- localized areas without pigmentation appear;
- there is an atrophic process in the retinal pigment epithelium.
Such processes can occur in conjunction with the appearance of whitish-yellow spots. As the disease progresses in the retinal pigment epithelium, an increased accumulation of lipofuscin-like substance is detected.
In all patients affected by this pathology, absolute or partial central scotomas are detected, which have different sizes, due to the prevalence of the process.
With a yellow-spotted form, the field of view of a sick person may remain within normal limits, but central vision is markedly reduced.
The majority of sick people who underwent examination showed a violation of color perception by the type of deuteranopia, red-green dyschromasia. With a yellow-spotted dystrophic process, color vision may not be affected at all.
With Stargardt dystrophy, the frequency of the spatial sensitivity of contrast undergoes a change (in the range of 6 - 10 º with a significant decrease in the region of medium spatial frequencies and a complete absence in the region of high frequencies). The syndrome is called the cone dystrophy pattern.
Symptoms include wavy vision of objects, blind spots, blur, color disturbance, and difficulty adapting in the presence of dim lighting.
Diagnosis of the disease
As a result of research at the genetic level, evidence is found that Stargardt's eye disease is determined by allelic disorders of the ABCR locus.
Diagnosis of the disease begins with an examination of the condition of the fundus. Fluorescence angiography of the retinal vessels is carried out, as well as an electrophysiological examination. In this case, the determination of the degree of damage is required. This makes it possible to identify a number of disease indicators, including hyperfluorescent foci and fluorescence of the optic nerve head.
Since the disease has a hereditary nature, the most accurate way to determine it will be diagnostics at the DNA level, which can identify hereditary monomonogenic diseases.
Differentiated diagnosis
Stargardt's disease should be distinguished from cone-rod, cone, and cone-cone dystrophic processes, dominant progressive foveal dystrophy, juvenile retinoschisis, macular vitelliform dystrophy.
Differentiated diagnosis is also indicated in the case of toxicosis during pregnancy acquired due to drug dystrophy (in particular, with chloroquin retinopathy).
Can Stargardt's disease be cured?
Etiological therapy does not exist. How is Stargardt's disease eliminated? An auxiliary treatment involves the use of parabulbar injections of taurine and antioxidants, the introduction of vasodilating agents (pentoxifylline, nicotinic acid), as well as steroids.
Vitamins are treated that help strengthen the walls of blood vessels and improve blood circulation. Usually used vitamins of groups B, A, C, E.
Physiotherapeutic procedures are indicated. Among them, electrophoresis with the use of drugs should be distinguished, as well as stimulation of the retina through the laser.
Retinal revascularization is used by transplanting muscle fibers from the macula zone.
Earlier, ophthalmologists around the world believed that the disease was not treatable. The above therapy helped only slightly delay the progression of the pathology, but in no way prevent it.
As a rule, treatment did not save people from complete loss of vision. It was necessary to develop a different technique that would contribute to the restoration of damaged eye structures.
Innovative Therapy
Is there currently an effective method for eliminating such a pathology as Stargardt's disease? How to treat a serious illness? The method was proposed in 2009 by Dr. Alexander Dmitrievich Romashchenko, who is the head of the center of ophthalmology "ON Clinics" (St. Petersburg, 69 Marat St., building B). He improved the treatment option for the disease, based on tissue cell treatment.
The basis of therapy is the use of stem cells from the adipose tissue of a sick person. The therapeutic method was developed previously by the scientist V.P. Filatov. Thanks to innovative technology, patients are given the opportunity to restore their lost vision and a full life is provided.
Dr. A. D. Romashchenko registered a complex of technologies in the field of biomedicine and patented the following methods of treatment with stem cells :
- combined method of eliminating the wet form of the disease;
- a complex method of paitogenetic therapy of central and tapetoretinal dystrophy.
What clinic is the treatment in?
The treatment of a complex disease is performed by the ophthalmological center “He Clinics”. The center is located in a city such as St. Petersburg. It is possible to treat Stargardt’s disease only in this center, since it is the only one in Russia that uses this technology.
Is stem cell therapy safe?
Specialists can confirm with confidence that therapy using the technology developed by A.D. Romashchenko is absolutely safe. For therapy, the patient’s cells are used, which excludes the possibility of their rejection or the development of other negative consequences.
Conclusion
Stargradt's disease makes its debut at an early age and quickly leads to absolute loss of vision. In very rare cases, when inheriting according to the dominant type, vision decreases at a slow pace. Patients are advised to visit an ophthalmologist, take vitamins and wear sunglasses. The most effective way to eliminate the pathology is considered to be stem cell therapy.