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Macular dystrophy of Besta
Last reviewed: 23.04.2024
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Vitamellar macular dystrophy Besta is a rarely observed bilateral retinal dystrophy in the macular area, which looks like a round yellowish focus, similar to a fresh egg yolk, with a diameter of 0.3 to 3 diameters of the optic nerve disc.
The gene responsible for the development of the Best's disease is localized on the long arm of the 11th chromosome (llql3). Type of disease inheritance Best - autosomal dominant.
In histological studies, it has been established that granules of a substance similar to lipofuscin are accumulated between the cells of the pigment epithelium and neuroepithelium, in the subretinal space and in the choroid - macrophages, the structure of the Bruch membrane is broken, acidic mucopolysaccharides accumulate in the inner segments of the photoreceptors. Over time, the degeneration of the outer segments of photoreceptors develops.
[Symptoms of macular degeneration Besta
The course of the disease is usually asymptomatic, it is detected accidentally when examining children aged 5-15 years. Occasionally, patients complain of blurred vision, difficulty reading small texts, metamorphosis. Visual acuity varies depending on the stage of the disease from 0.02 to 1.0. Changes in most cases are asymmetrical, bilateral.
Depending on the ophthalmoscopic manifestations, four stages of the disease are distinguished, although the development of macular changes does not always go through all stages.
- Stage I - minimal disturbances of pigmentation in the form of small yellow foci in the macula;
- Stage II - classical vigelliform cyst in the macula;
- Stage III - cyst rupture and various phases of resorption of its contents;
- Stage IV - formation of a fibro-scleral scar with or without subretinal neovascularization.
Reduction of visual acuity is usually observed in the third stage of the disease, when the cysts are torn. As a result of resorption and displacement of the contents of the cyst, a picture of "pseudohypopion" is formed. Subretinal hemorrhages and formation of the subretinal neovascular membrane are possible, ruptures and detachment of the retina are very rare, with the development of choroidal sclerosis.
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Diagnosis of macular degeneration Besta
The diagnosis is based on the results of ophthalmoscopy, fluorescent angiography, electroretinography and electrooculography. Assistance in diagnosis can be provided by an examination of other family members.
On the PHAG in the first stage of the disease there is local hyperfluorescence in the zones of atrophy of the pigment epithelium, in the second stage - the absence of fluorescence in the cyst area. After rupture of the cyst, hyperfluorescence is detected in its upper half and a "block" of fluorescence in the lower half. After the resorption of the contents, the cysts in the macula reveal the final defects.
The pathognomonic sign of Best's disease is pathological EOG. General and local ERGs do not change. In the III-IV stages of the disease, a central cattle is detected in the field of vision.
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Treatment of macular degeneration Besta
There is no pathogenetically grounded treatment. In the case of the formation of the subretinal neovascular membrane, laser photocoagulation can be performed.
Vitelliform macular degeneration of adults. In contrast to Best's disease, foveal changes develop in adulthood, are smaller and do not progress. EOG, as a rule, is not changed.