RETINAL DYSTROPHIES AND SYNDROMES
Best vitelliform macular dystrophy (VMD), or Best disease, is an autosomal-dominant disorder with variable penetrance and expressivity, characterized by variable deposition of yellowish material (lipofuscin) in the retinal pigment epithelium (RPE) and/or subretinal space.
Onset may occur in childhood or decades later. In the “previtelliform” stage, there is a normal fundus appearance. The electro-oculogram (EOG) is usually abnormal, even in asymptomatic patients and is therefore helpful in making the diagnosis.
The disease is slowly progressive and eventually results in atrophy of the retinal pigment epithelium (RPE) and photoreceptors, severely impairing central vision. Fundus autofluorescence is useful in detecting the lipofuscin accumulation which appears hyperautofluorescent. Patients may complain...