Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma.

ABSTRACT:

Purpose

To describe the phenotype of ocular hypertension and primary open-angle glaucoma in a family with individuals compound heterozygote for Gln368STOP and Thr377Met myocilin (MYOC) mutations.

Methods

Family members of the proband underwent comprehensive ocular clinical examination and DNA sequencing for MYOC mutations.

Results

A 34-year-old woman with marked ocular hypertension was found to carry Gln368STOP and Thr377Met MYOC mutations. Three other siblings carried both mutations, while one carried Gln368STOP alone. Three of five siblings had received treatment for ocular hypertension or early glaucoma, with the average age of diagnosis 28 years; one required trabeculectomy at age 27. The mother of the proband was found to be a carrier for Gln368STOP alone, which

SUBMITTER: Young TK 

PROVIDER: S-EPMC3538040 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature