Best Vitelliform Dystrophy; Pathophysiology, Findings, Diagnosis, and Treatment

Abstract

Best vitelliform dystrophy is the second most common hereditary macular dystrophy. It is an early-onset, progressive disease with autosomal dominant inheritance. The BEST1 gene is located on the long arm of the 11th chromosome and is responsible for the production of a transmembrane protein called bestrophin-1. The disease takes its name from the classic egg yolk-like macular lesion. Its histopathology shows increased lipofuscin in retinal pigment epithelium (RPE), photoreceptor loss, sub RPE deposits, and cell and material accumulation in the subretinal area. As long as complications such as choroidal neovascularization, macular scar, and geographical atrophy do not develop, the disease has a relatively good prognosis. The aim of this review is to summarize the possible etiopathogenesis, examination findings, imaging and electrophysiology characteristics, and treatment approaches of Best vitelliform dystrophy in the light of current literature.