Dr. VINOD KUMAR, Dr.SUNEEL KUMAR, Prof.Dr. PRADEEP VENKATESH
Abstract
Bestrophinopathies are a group of disorders associated with the involvement of BEST1 gene and present with various phenotypic forms. Though macular hole and macular hole associated retinal detachment have been described in Best vitelliform macular dystrophy, there is no documentation of the same in Autosomal recessive Bestrinopthy (ARB). Herein, we describe a case with ARB with macular hole associated retinal detachment which showed type II closure after vitrectomy. Genetic study confirmed a novel mutation involving BEST1 gene.
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