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Article

Optic Atrophy Associated With a Mitochondrial G8363A Mutation in a Family.

Clinical genetics - 1 Jul 2026

Lyu Leyu, Sun Xiaolei

Abstract excerpt

We report a rare family of optic atrophy diseases associated with mitochondrial DNA G8363A transfer ribonucleic acid (RNA) cleavage mutations. This family does not exhibit the characteristic symptoms of myoclonic epilepsy or cutaneous lipomas, but instead presents with bilateral optic atrophy. The clinical presentation in this family is highly atypical compared to previous reports.

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PMID: 41846484
DOI: 10.1111/cge.70152

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