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


Young, TK and Souzeau, E and Liu, L and Kearns, LS and Burdon, KP and Craig, JE and Ruddle, JB, Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma, Molecular Vision, 18 pp. 3064-3069. ISSN 1090-0535 (2012) [Refereed Article]


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Copyright 2012 Creative Commons Attribution-NonCommercial-No Derivatives License 3.0 (CC BY-NC-ND 3.0)

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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 indicates that her offspring with both Gln368STOP and Thr377Met carry variants on opposing alleles. Conclusions: This pedigree is the first report with individuals compound heterozygote for the two most common glaucoma-causing MYOC variants. The combination of mutations manifests a more severe phenotype than either alone. Identification of gene changes associated with glaucoma within the family has enabled unaffected members to stratify their risk of future disease and institute closer monitoring and early treatment.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
ID Code:90107
Year Published:2012
Web of Science® Times Cited:8
Deposited By:Menzies Institute for Medical Research
Deposited On:2014-03-27
Last Modified:2014-04-16
Downloads:261 View Download Statistics

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