Journal of Clinical and Experimental Ophthalmology
Open Access
ISSN: 2155-9570
ISSN: 2155-9570
Rong-Kung Tsai
Institute of Eye Research, Buddhist Tzu Chi General Hospital,
707 Sec. 3 Chung-Yung Road, Hualien 970
People's Republic of China
Letter to Editor
Leber's Hereditary Optic Neuropathy Associated with the m.10197G>A Mutation
Author(s): Tzu-Lun Huang, Jia-Kang Wang, Cheng-Yoong Pang, Rong-Kung TsaiTzu-Lun Huang, Jia-Kang Wang, Cheng-Yoong Pang, Rong-Kung Tsai
Leber hereditary optic neuropathy (LHON) is an optic neuropathy caused by homoplasmic or heteroplasmic mtDNA mutations, which predominantly cause damage to the retinal ganglion cells (RGCs). The mtND3*10197A (m.10197G>A) mutation has been identified as the novel causative gene in Chinese patients with LHON and dystonia [1]. The m.10197G>A mutation also has been detected in patients with bilateral basal ganglia lesions and Leigh syndrome [2-4]. This mutation substitutes a threonine for an alanine at codon 47 of MTND3... View More»
DOI:
10.4172/2155-9570.1000673