Autosomal recessive bestrophinopathy (ARB) is a rare retinal dystrophy caused by homozygous or compound heterozygous null variants in the BEST1 gene. Clinically, ARB presents with variable features including central visual impairment, global photoreceptor dysfunction (as indicated by abnormal full-field ERG), and a significantly reduced electro-oculogram (EOG) light rise, a hallmark of bestrophinopathy. Fundus examination reveals […]
The post A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy. first appeared on Physician’s Weekly.
