A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma

Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma.

OBJECTIVE To search for the genetic cause of juvenile-onset open-angle glaucoma (JOAG) in a Chinese family. METHODS In a 3-generation glaucoma family affected with JOAG or ocular hypertension, we screened myocilin (MYOC) and optineurin (OPTN) for mutations and investigated apolipoprotein E (APOE) polymorphisms in 6 family members, 2 of them patients with JOAG, 2 patients with ocular hypertens...

Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma.

OBJECTIVES To investigate the prevalence of myocilin (MYOC) mutations in Italian families with glaucoma and to determine the relationship of these mutations to primary open-angle glaucoma (POAG), juvenile open-angle glaucoma (JOAG), and pigmentary dispersion glaucoma. METHODS Twenty-six patients with POAG were selected based on a positive family history of glaucoma. All patients and 210 relat...

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

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 analys...

Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma

PURPOSE To investigate the genetic linkage of primary open-angle glaucoma (POAG) in a Chinese family. METHODS We have screened for myocilin (MYOC) gene mutations in a glaucoma family of five generations. There are fifty-six members of whom 11 were confirmed to have POAG , two with ocular hypertension were considered as POAG suspect, and the remaining 43 were asymptomatic. We also recruited 20...

A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure