Which is autosomal dominant: (A) Gyrate Atrophy, (B) Best Disease, (C) Lawrance Moon Biedl Syndrome, (D) Bassen Komzweig's Disease
Answer is B. B i.e. Best Disease Best disease & vitelliform dystrophy occurs d/t mutation of bestrophin (VMD2) gene on 11q13 chromosome and has autosomal dominant inheritence (AD)Q. It has lipofuscin accumulation through out the RPE. It is typified by a large yellow yolk like (vitelliform) lesion giving characteristic egg yolk appearance, that is bilateral & symmetrical in the central macula and appears during childhood (3-15 years). The visual acuity is usually good when the yolk remains intact and drops once scarring begins.