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Abstract #15885 Published in IGR 2-3
The Gly367Arg mutation in the myocilin gene causes adult-onset primary open-angle glaucoma
Taniguchi F; Suzuki Y; Shirato S; Araie MJapanese Journal of Ophthalmology 2000; 44: 445-448
PURPOSE: To present the phenotype of a family whose members showed the Gly367Arg mutation in the myocilin gene and developed primary open-angle glaucoma (POAG). METHODS: The proband developed POAG when the patient was 45 years old. Examination of the myocilin gene revealed that she had a mutation causing amino-acid change (Gly367Arg) in the myocilin gene. The available family members were given clinical and genetic examinations. RESULTS: Eight members of this family carried the same mutation. The age of disease onset of POAG in these patients with the mutation averaged 36.7 years. Four young members with the mutation, with an average age of 20.8 years, had not yet developed POAG. CONCLUSION: The Gly367Arg mutation of the myocilin gene in the pedigree causes the development of POAG in adulthood.
Dr. F. Taniguchi, Eye Clinic, Ohmiya Red Cross Hospital, 8-3-33, Kami-Ochiai, Yono-City, Saitama 338-8553, Japan
Classification:
1.2 Population genetics (Part of: 1 General aspects)
