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

ABSTRACT:

Background

Glaucoma is a leading cause of irreversible blindness. Pathogenic variants in the Myocilin gene (MYOC) cause juvenile open angle glaucoma (JOAG) in 8-36% of cases, and display an autosomal dominant inheritance with high penetrance. Molecular diagnosis is important for early identification as therapies are effective in minimizing vision loss and MYOC variants can be associated to severe glaucoma. MYOC variants are usually inherited, however a fifth of carriers do not report a family history. The occurrence of de novo MYOC variants is currently unknown.

Case presentation

In this study we investigated a 14 year old male Caucasian patient diagnosed with JOAG, and no family history of glaucoma. A novel probably deleterious MYOC:p.(Pro254Leu) variant was identified in t

SUBMITTER: Souzeau E 

PROVIDER: S-EPMC4831102 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature