Identification of a novel MYOC variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure
- June Criscione1,
- Weizhen Ji1,
- Lauren Jeffries1,
- James M. McGrath2,
- Scott Soloway3,
- Lajos Pusztai4 and
- Saquib Lakhani1
- 1Pediatric Genomics Discovery Program, Department of Pediatrics, Genomics, and Epigenetics Program, Yale University School of Medicine, New Haven, Connecticut 06520, USA;
- 2Department of Genetics, Genomics, and Epigenetics Program, Yale University School of Medicine, New Haven, Connecticut 06520, USA;
- 3Department of Ophthalmology, Genomics, and Epigenetics Program, Yale University School of Medicine, New Haven, Connecticut 06520, USA;
- 4Yale Cancer Center Genetics, Genomics, and Epigenetics Program, Yale University School of Medicine, New Haven, Connecticut 06520, USA
- Corresponding author: saquib.lakhani{at}yale.edu
Abstract
Primary open-angle glaucoma (POAG) is the leading cause of irreversible blindness worldwide. Most cases are multifactorial in etiology, but some are associated with variants in the myocilin gene, MYOC. Here, we report the identification of a novel MYOC variant, c.1153G>A, in a 24-yr-old female patient with a personal and family history of juvenile/early-onset POAG. Further genetic testing within her family demonstrated that this variant segregates with the POAG phenotype in an autosomal dominant pattern. Identification of this MYOC variant in multiple affected relatives provides evidence for its pathogenicity, supporting previous findings linking MYOC mutations, in particular in the third exon's olfactomedin domain, to juvenile-onset POAG. This case also emphasizes the potential value of genetic testing in families with histories of eye disorders.
- Received May 13, 2019.
- Accepted August 9, 2019.
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