Vitteliform macular dystrophy or Best disease was first described by Dr Frank Best at 1905. It’s about a disorder which is inherited by autosomal dominant type and affects young juveniles.
The disease is divided in five stages. A very common diagnostic tool, which gives us useful information, is called electroretinogram. In case of Best disease this examination is distorted, even in carriers who seem to be normal.
Best disease pathophysiology
The lesions of Best disease are limited to the eye. That means that the disorder does not provoke problems in other parts of the body. The problems that appear in the eye due to the disease, arise from lesions in a very sensitive part of the retina called retinal pigment epithelium (RPE). This layer is full of melanin and is the region where the photoreceptors of the retina are lying on. This layer also is very important for prohibiting any fluid from other tissues of the eye to pass in the retina. A malfunction of the RPE leads to an impaired and iron transport. Lipofuscin accumulates in the RPE cells and in the region under the RPE and especially around macula. Sometimes retinal photoreceptors (rods and cones) may be distorted or lost.