A novel spontaneous missense mutation in VMD2 gene is a cause of a Best macular distrophy sporadic case

PURPOSE: To report the molecular characterization of a novel VMD2 mutation causing a Best macular dystrophy sporadic case. METHODS: All family members underwent ophthalmologic examination and genetic testing by single strand conformation polymorphism analysis and direct sequencing of the VMD2 gene. RESULTS: A single T to G transition at nucleotide 663 was identified in one of the VMD2 gene copies of the patient, which results in a Cys to Trp substitution at position 221 in the corresponding protein (C221W). Sequence analysis of the VMD2 exon 6 of both parents of the patient did not reveal any mutation. CONCLUSION: These data confirm the involvement of the VMD2 gene in Best macular dystrophy onset, even in sporadic cases of the disease, pointing out the relevance of molecular analysis in the diagnosis of this degenerative retinal disease.