Clinical manifestations and gene analysis in one Chinese family with Best vitelliform macular dystrophy

Abstract

To describe clinical phenotype in a Chinese family with Best vitelliform macular dystrophy (BVMD) and to identify the mutation of the VMD2 gene in this family. It was a retrospective case analysis. Five patients (10 eyes) were diagnosed as BVMD by the fundus photography, EOG, fluorescein angiography (FFA) and optical coherence tomography (OCT). Their clinical data were analyzed retrospectively. Molecular genetic analysis was performed on DNA extracted from peripheral leucocytes of all patients and 2 unaffected family members. Exon 1 to 11 of the VMD2 gene were amplified by polymerase chain reaction for direct sequencing. The pedigree showed an autosomal dominant inheritance. Ten eyes from 5 patients were classified into Stage 0, II a, II b, III and IV with different clinical manifestations. Direct sequencing of all affected members revealed a T-->G transition at codon 301, producing Asp301Glu mutation of VMD2 gene. Asp301Glu mutation of the VMD2 gene is found in a Chinese family with BVMD. The phenotype of BVMD in this family belongs to geographic type. Molecular genetic approach may be useful for the proper diagnosis of BVMD.