A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy 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 geneti c testing by single strand conformation polymorphism analysis and direct se quencing 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 subs titution at position 221 in the corresponding protein (C221W). Sequence ana lysis 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 mac ular dystrophy onset, even in sporadic cases of the disease, pointing out t he relevance of molecular analysis in the diagnosis of this degenerative re tinal disease, (Am J Ophthalmol 2000;129:260-262, (C) 2000 by Elsevier Scie nce Inc. All rights reserved.).