Which is autosomal dominant
Correct Answer: Best Disease
Description: 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.
Category:
Ophthalmology
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