A novel mutation in a case of dominant optic atrophy.

ABSTRACT

A 39‑year‑old healthy woman presented for decreased vision at distance and near for 4 years. She also noted a decrease in her color vision. Her best‑corrected visual acuities were 20/70 in each eye. Her visual fields were abnormal, and she had bilateral sluggish pupils, impaired color vision, and optic disc pallor. The magnetic resonance imaging of the brain, heavy metal screen, autoimmune work‑up, B12, B6, folate, erythrocyte sedimentation rate, rapid plasma reagin, and Lyme titer were all normal. Optical coherence tomography of the macula and electroretinogram were normal; the visual evoked potential was unrecordable in both eyes. She denied a family history of similar ocular issues, and genotyping of the OPA1 gene revealed a novel previously unreported mutation at IVS12+10T >C.