About this document
Genetic Insights into Korean Optic Neuropathy by crisantonio1982 is a document available to read on EtoBox.
This study investigates the genetic spectrum and clinical characteristics of autosomal optic neuropathy in a cohort of 57 Korean families using next-generation sequencing (NGS). The research identified 22 likely causative variants in 18 families, achieving a diagnostic yield of 31.6%, with higher success rates in patients with early-onset optic atrophy. The findings highlight the utility of NGS in diagnosing hereditary optic atrophy, particularly in cases with familial history and early onset.
- Author
- crisantonio1982
- Language
- EN