Clinical Genetics of Vitelliform Macular Dystrophy: An Asian Perspective

Abstract

Vitelliform macular dystrophy (VMD) is a group of macular dystrophy characterized by the subretinal accumulation of yellow yolk-like materials which predominantly affect the macula. Best vitelliform macular dystrophy is among the most common autosomal dominant (AD) retinal dystrophy, caused by mutations in the BEST1 gene. Since first identification of BEST1 gene in 1998, molecular biology and pathophysiology of BEST1 gene and vitelliform macular dystrophy were studied. Recent advances in genetic analysis have described over 200 different human BEST1 mutations to date, associated with a broad spectrum of ocular diseases, called bestrophinopathy. However, the genotype-phenotype correlation in VMD is largely unexplored. Genetic test is clinically important in the diagnosis of VMD because the clinical features of VMD are similar to those of exudative age-related macular degeneration (AMD), choroidal neovascularization (CNV), or central serous chorioretinopathy (CSC). Here, in addition to describing the clinical characteristics of VMD, this chapter focuses on the clinical genetics of BEST1 gene in VMD.