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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