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Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy.

Authors
  • Chen, Yabin1
  • Jia, Xiaoyun
  • Wang, Panfeng
  • Xiao, Xueshan
  • Li, Shiqiang
  • Guo, Xiangming
  • Zhang, Qingjiong
  • 1 State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China. , (China)
Type
Published Article
Journal
Molecular vision
Publication Date
Jan 01, 2013
Volume
19
Pages
292–302
Identifiers
PMID: 23401657
Source
Medline
License
Unknown

Abstract

This study implies that the frequency of DOA is much lower than that of Leber hereditary optic neuropathy in Chinese compared with other ethnic groups. Lack of awareness of the mild phenotype of DOA may contribute to the low frequency of OPA1-related DOA in Chinese. The phenotype associated with compound heterozygous OPA1 mutations may suggest a possible addictive effect.

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