[Two variants in MYOC and CYP1B1 genes in a Chinese family with primary angle-closure glaucoma].

OBJECTIVE

To describe the clinical and genetic characteristics of a Chinese family with primary angle-closure glaucoma (PACG).

METHODS

Linkage analysis and DNA sequencing as well as single strand conformation polymorphism (SSCP) analysis were performed to identify the disease-causing mutations.

RESULTS

The Arg46Stop mutation in MYOC gene and Leu432Val in CYP1B1 gene were identified in all patients. The digenic alterations have not been identified in any same Chinese control individuals.

CONCLUSION

Author identified digenic mutations, Arg46Stop in MYOC gene and Leu432Val in CYP1B1 gene, in a Chinese PACG family. Author's studies suggest a possible role of MYOC and CYP1B1 in the development of PACG and support the hypothesis that PAOG and PACG may have common origin across multiple glaucoma phenotypes.