J Korean Ophthalmol Soc.  2022 Mar;63(3):325-329. 10.3341/jkos.2022.63.3.325.

Dominant Optic Atrophy Caused by the c.1334G>A Mutation of the OPA1 Gene

• Choi YS
• Oh JH
• Hwang SK
• Chun BY

• KMID: 2527374
• DOI: http://doi.org/10.3341/jkos.2022.63.3.325

Abstract

Purpose
Dominant optic atrophy is one of the most common hereditary optic neuropathies, causing progressive bilateral vision loss that begins early in life. Optic atrophy 1 (OPA1) gene mutation brings about mitochondrial dysfunction, which results in clinical manifestations of dominant optic atrophy. Here, we report a case of dominant optic atrophy caused by the c.1334G>A mutation of the OPA1 gene, the first known case in Korea to our knowledge.
Case summary
A 12-year-old female patient with no specific medical history or systemic symptoms visited our clinic complaining of a progressive decrease in vision in either eye. Slit-lamp microscopy, intraocular pressure, ocular motility, and pupil reflex were normal. However, her best-corrected visual acuity in both eyes was 20/100, and her color vision was reduced to 8/12 in Ishihara’s test. Fundus examination showed temporal pallor of the optic nerve head in both eyes, and a corresponding cecocentral scotoma was observed on Goldmann visual field examination. Optical coherence tomography revealed significant thinning of the peripapillary retinal fiber layer and macular ganglion cell layer in both eyes. Genetic examination confirmed the c.1334G>A mutation of the OPA1 gene.
Conclusions
We report a case of dominant optic nerve atrophy caused by c.1334G>A mutation of the OPA1 gene and its clinical manifestations.

Keyword

Dominant optic atrophy, Mitochondrial dysfunction, OPA1 gene mutation