Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile

摘要

Clinical features of the ARB patients in the family. Color funduscopy (CF) of the proband was normal, overall. Fundus autofluorescence (FAF) image of the proband showed annular hyperfluorescence around the posterior pole. OCT results of the proband revealed bilateral cystoid macular edema with subretinal fluid. The affected younger sister’s ultrasound biomicroscopy (UBM) results showed a shallower anterior chamber depth, and half of the anterior chamber angles were closed. The affected younger sister’s fundus fluorescence angiography (FFA) revealed mild fluorescence leakage beneath the macula