ABSTRACT
Introduction: In this paper, we report a novel VMD2 gene mutation in a Chinese family with Best vitelliform macular dystrophy.
Materials and Methods: Ophthalmologic 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. Results: Sequence 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. Conclusions: A novel mutation in the VMD2 gene (C427G) was found in Chinese patients with Best vitelliform macular dystrophy.Best vitelliform macular dystrophy is an autosomal dominant disorder characterised by an egg yolk-like appearance of the macula. The vitelliform “egg yolk” lesions result from abnormal accumulation of lipofuscin in the retinal pigment epithelium (RPE).
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