“Novel p.Tyr284Cys BEST1 genotype–phenotype correlations of Vitelliform Macular Dystrophy in a family with incomplete penetrance”

A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease

“…Best vitelliform macular dystrophy (BVMD), also known as Best disease, is an autosomal dominant inherited retinal dystrophy that occurs in roughly 1 in 15,000–20,000 individuals ( 4 ). There are multiple reports of incomplete penetrance in BVMD ( 5 – 7 ). Typically, BVMD presents early in life with fundus findings of vitelliform, or egg yolk-like lesions, that later progress to RPE atrophy; however, the age of onset can be variable, with cases of disease onset as late as 75 years old ( 8 ).…”