A novel pontaneou miene mutation in VMD2 gene i a caue of a Bet macular dytrophy poradic cae

PURPOE: To report the molecular characterization of a novel VMD2 mutation cauing a Bet macular dytrophy poradic cae. METHOD: All family member underwent ophthalmologic examination and genetic teting by ingle trand conformation polymorphim analyi and direct equencing of the VMD2 gene. REULT: A ingle T to G tranition at nucleotide 663 wa identified in one of the VMD2 gene copie of the patient, which reult in a Cy to Trp ubtitution at poition 221 in the correponding protein (C221W). equence analyi of the VMD2 exon 6 of both parent of the patient did not reveal any mutation. CONCLUION: Thee data confirm the involvement of the VMD2 gene in Bet macular dytrophy onet, even in poradic cae of the dieae, pointing out the relevance of molecular analyi in the diagnoi of thi degenerative retinal dieae.