Clin Genet. 2026 Mar 18. doi: 10.1111/cge.70152. Online ahead of print.
ABSTRACT
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.
PMID:41846484 | DOI:10.1111/cge.70152