Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis.

Purpose: To evaluate a genetic approach of BEST1 and PRPH2 screening according to age of onset, family history, and Arden ratio in patients with juvenile vitelliform macular dystrophy (VMD2) or adult-onset vitelliform macular dystrophy (AVMD), which are characterized by autofluorescent deposits.

Design: Clinical, electrophysiologic, and molecular retrospective study.

Participants: The database of a clinic specialized in genetic sensory diseases was screened for patients with macular vitelliform dystrophy.