Novel mutation in BEST1 associated with retinoschisis.

Best vitelliform macular dystrophy (BVMD) is caused by mutations in BEST1 (also known as VMD2; OMIM 153700) on the long arm of chromosome 11. An array of BEST1 phenotypes have now been characterized, including microcornea, rodcone dystrophy, early-onset catar ac t , pos t e r io r s t aphy loma syndrome, vitreoretinochoroidopathy, and adult-onset foveomacular vitelliform dystrophy. BEST1 encodes bestrophin, a 585–amino acid protein with more than 120 described mutations. We herein present 2 siblings with bilateral retinoschisis and electroretinography (ERG) consistent with BVMD associated with a novel mutation in BEST1.