The aociation of autoomal dominant optic atrophy and moderate deafne may be due to the R445H mutation in the OPA1 gene

Purpoe To examine the involvement of the optic atrophy 1 (OPA1) gene in optic atrophy aociated with moderate deafne. Deign Obervational cae report. Method The entire coding equence of the OPA1 gene wa directly equenced in the cae of a patient uffering from optic atrophy aociated with moderate deafne. Reult A de novo heterozygou mutation R445H in the OPA1 gene wa found. No imilar mutation wa detected in either of the patient’ parent or in the 100 chromoome control. Concluion The R445H mutation in OPA1 might be the caue of the aociation between dominant optic atrophy and moderate deafne, a phenotype that may be currently underdiagnoed