A novel mutation in the OPA1 gene in a Japanee patient with optic atrophy

Purpoe To report a novel mutation of the OPA1 gene in a Japanee patient with optic atrophy and to decribe the clinical feature of the patient. Deign Obervational cae report. Method Genomic DNA wa extracted from leukocyte of four unrelated Japanee patient with optic atrophy. All the exon and plice ite of the OPA1 gene were amplified by polymerae chain reaction and directly equenced. Reult One patient with optic atrophy had a heterozygou Arg445Hi mutation in the OPA1 gene. The Arg445Hi mutation wa detected neither in 110 control ubject nor in the patient’ healthy family member. Concluion A novel mutation of the OPA1 gene, imilar to thoe reported in Wetern countrie, wa detected in a Japanee patient with optic atrophy. Mutation of the OPA1 gene may contribute to the development of optic nerve atrophy in Japanee cae of optic atrophy.