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Article

Pro370Leu MYOC gene mutation in a large Chinese family with juvenile-onset open angle glaucoma: correlation between genotype and phenotype.

Molecular vision - 22 Aug 2008

Zhuo Ye-Hong, Wei Yan-Tao, Bai Yu-Jing, Duan Shan, Lin Ming-Kai, Saragovi H Uri, Ge Jian

Abstract excerpt

PURPOSE: Glaucoma is the leading cause of irreversible blindness worldwide. Most of the cases are primary open angle glaucoma (POAG). POAG is a genetically heterogenous disease; autosomal dominance is the most frequent type of monogenic inheritance. In this study, we identified the genotype of a MYOC mutation and investigated the phenotype of a Chinese juvenile-onset open angle glaucoma (JOAG) pedigree (GZ.1...

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Identifiers

PMID: 18728751
PMCID: PMC2518531

Genes

MYOC

Provenance

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