Pro370Leu myocilin mutation in a Chinese pedigree with juvenile-onset open angle glaucoma.

ABSTRACT:

Purpose

To investigate the genotype and phenotype of juvenile-onset open angle glaucoma (JOAG) in a Chinese family (PN pedigree).

Methods

Each family member was comprehensively examined by an experienced ophthalmologist. The clinical characteristics of the family patients with JOAG were documented. Blood samples were obtained from 22 available participants from the PN pedigree. Linkage analysis was performed to identify the possible chromosome loci. The presence of gene mutation was ascertained by polymerase chain reaction amplification and subsequent direct sequencing.

Results

The affected members in the PN pedigree are characterized by early age of onset (mean age at diagnosis is 17 years old), severe clinical presentations, high intraocular pressure (mean IOP of 34

SUBMITTER: Wei YT 

PROVIDER: S-EPMC3110496 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature