Medical expert of the article
New publications
Best's macular dystrophy
Last reviewed: 07.07.2025
All iLive content is medically reviewed or fact checked to ensure as much factual accuracy as possible.
We have strict sourcing guidelines and only link to reputable media sites, academic research institutions and, whenever possible, medically peer reviewed studies. Note that the numbers in parentheses ([1], [2], etc.) are clickable links to these studies.
If you feel that any of our content is inaccurate, out-of-date, or otherwise questionable, please select it and press Ctrl + Enter.
Best's vitelliform macular dystrophy is a rare bilateral retinal dystrophy in the macular region, appearing as a round yellowish lesion, resembling a fresh egg yolk, with a diameter of 0.3 to 3 optic disc diameters.
The gene responsible for the development of Best's disease is localized on the long arm of chromosome 11 (llql3). The type of inheritance of Best's disease is autosomal dominant.
Histological studies have established that granules of a substance similar to lipofuscin accumulate between the cells of the pigment epithelium and neuroepithelium, macrophages accumulate in the subretinal space and in the choroid, the structure of Bruch's membrane is disrupted, and acidic mucopolysaccharides accumulate in the internal segments of photoreceptors. Over time, degeneration of the external segments of photoreceptors develops.
[ Symptoms of Best's Macular Dystrophy
The disease is usually asymptomatic and is detected accidentally during examination of children aged 5-15 years. Occasionally, patients complain of blurred vision, difficulty reading small print, and metamorphopsia. Visual acuity varies depending on the stage of the disease from 0.02 to 1.0. Changes are asymmetrical and bilateral in most cases.
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 pigmentation disorders in the form of small yellow spots in the macula;
- Stage II - classic vigelliform cyst in the macula;
- Stage III - rupture of the cyst and various phases of resorption of its contents;
- Stage IV - formation of fibroglial scar with or without subretinal neovascularization.
Decreased visual acuity is usually observed in stage III of the disease, when cysts rupture. As a result of resorption and displacement of the cyst contents, a "pseudohypopyon" picture is formed. Subretinal hemorrhages and formation of a subretinal neovascular membrane are possible, retinal ruptures and detachment are very rare, with age - development of choroidal sclerosis.
What's bothering you?
Diagnosis of Best's macular dystrophy
The diagnosis is established based on the results of ophthalmoscopy, fluorescein angiography, electroretinography and electrooculography. Examination of other family members may help in diagnosis.
In stage I of the disease, local hyperfluorescence is noted in the areas of pigment epithelium atrophy; in stage II, there is no fluorescence in the cyst area. After the cyst ruptures, hyperfluorescence is detected in its upper half and a "block" of fluorescence in the lower half. After the cyst contents are resorbed, fenestrated defects are detected in the macula.
The pathognomonic sign of Best's disease is pathological EOG. General and local ERG do not change. In stages III-IV of the disease, a central scotoma is detected in the visual field.
What do need to examine?
How to examine?
Treatment of Best's macular degeneration
There is no pathogenetically proven treatment. In case of formation of subretinal neovascular membrane, laser photocoagulation can be performed.
Vitelline vitelliform macular degeneration of adults. Unlike Best's disease, foveolar changes develop in adulthood, are smaller in size and do not progress. EOG is usually unchanged.