Article
Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy.
PloS one - 1 Jan 2017
Li Yadi, Li Jie, Jia Xiaoyun, Xiao Xueshan, Li Shiqiang, Guo Xiangming
Abstract excerpt
Leber hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA), the most common forms of hereditary optic neuropathy, are easily confused, and it is difficult to distinguish one from the other in the clinic, especially in young children. The present study was designed to survey the mut...
Topics
- Adolescent
- Alleles
- Asian People
- Case-Control Studies
- China
- DNA Mutational Analysis
- DNA, Mitochondrial
- Exons
- Female
- GTP Phosphohydrolases
- Humans
- Male
- Optic Atrophy, Autosomal Dominant
- Optic Atrophy, Hereditary, Leber
- Pedigree
- Polymorphism, Genetic
- Proteins