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Abstract #8603 Published in IGR 5-1
Penetrance and phenotype of the Cys433Arg myocilin mutation in a family pedigree with primary open-angle glaucoma
Cabral de Vasconcellos JP; Barbosa de Melo B; Schimiti R; Ferreira Costa R; Paulino Costa VJournal of Glaucoma 2003; 12: 104-107
PURPOSE: To evaluate the penetrance and the clinical characteristics of the Cys433Arg myocilin mutation in a family pedigree with primary open-angle glaucoma. PATIENTS AND METHODS: Primary open-angle glaucoma was defined as untreated intraocular pressure (IOP) over 24 mmHg, with characteristic optic nerve and visual field glaucomatous damage. Patients with IOP < 24 mmHg who were currently being treated for primary open-angle glaucoma were included as affected individuals. Genomic DNA was collected from peripheral blood. PCR, single-strand conformation polymorphism, and sequencing analyses were performed to identify the presence of the Cys433Arg mutation in family members. RESULTS: Of the 48 members of this family evaluated, 17 (35%) were found to harbor the Cys433Arg mutation, nine (53%) of whom were glaucomatous. None of the 31 individuals without the mutation had glaucoma. Of the nine patients with glaucoma, five had undergone surgical procedure to improve IOP control, including all patients older than 40 years of age. The mutation's penetrance was 0% in persons younger than ten years (0/4), 40% in those 11-30 years (2/5), 75% in persons 30-40 years (3/4), and 100% in those older than 40 years (4/4). CONCLUSIONS: The Cys433Arg mutation in this pedigree was associated with a phenotype characterized by early-onset open-angle glaucoma, which frequently requires surgical intervention and is associated with high penetration.
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Classification:
1.2 Population genetics (Part of: 1 General aspects)