BESTROPHINOPATHY
National Institutes of Health
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Vitelliform macular dystrophy (VMD) is a group of macular dystrophy characterized by the subretinal accumulation of yellow yolk…
Herein, we report the case of an 8-year-old girl who presented in December 2000 with a submacular neovascular membrane in the…
Purpose: To describe the variable ocular phenotype associated with a heterozygous mutation in the BEST1 gene. Methods: Clinical…
Abstract Introduction: Bestrophinopathies result from mutations within the BEST1 gene; although multiple gene mutations have been…