INTRODUCTIONIn this paper, we report a novel VMD2 gene mutation in a Chinese family with Best vitelliform macular dystrophy.

MATERIALS AND METHODSOphthalmologic examination and optical coherence tomography (OCT) were performed in 2 members of this family. Mutational screening was performed by single-strand conformation polymorphism (SSCP) and direct sequencing of PCR-amplified DNA fragments, corresponding to the 11 exons of the gene.

RESULTSSequence analysis identified a previously unreported C to G change, predicting a Phe-113-Leu substitution. Both the proband and his sister harboured this novel mutation. Each had bilateral vitelliform lesions.

CONCLUSIONSA novel mutation in the VMD2 gene (C427G) was found in Chinese patients with Best vitelliform macular dystrophy.

Adult ; Bestrophins ; China ; Chloride Channels ; Eye Proteins ; genetics ; Female ; Humans ; Macular Degeneration ; genetics ; Male ; Mutation ; Pedigree