BEST DISEASE - a rare form of Vitelliform macular dystrophy

Abstract

Vitelliform macular dystrophy (Best disease) is a rare bilateral macular dystrophy with autosomal dominant inheritance  characterised by accumulation of subretinal yellowish material in the macular area .The disease is slowly progressive and eventually result in atrophy of RPE (retinal pigment epithelium) and photoreceptors severely impairing central vision. Visual acuity cannot be predicted from appearance of macular lesion. Fluorescence   angiography ,Optical coherence tomography, Electro  oculogram, Electro retinogram will help in diagnosis. Till date there is no treatment to this disease. We present a 40yrs old male who came with the complaint of defective vision BE. Anterior segment findings were normal .Fundus examination revealed RE yellowish cystic lesion at the macula region, LE pseudohypopyon at macula. FFA and OCT confirmed the diagnosis of Best disease.