1. Glaucoma phenotype in a large Swiss pedigree with the myocilin Gly367Arg mutation.
- Author
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Iliev ME, Bodmer S, Gallati S, Lanz R, Sturmer J, Katsoulis K, Wolf S, Trittibach P, and Sarra GM
- Subjects
- Adolescent, Adult, Aged, Aged, 80 and over, Female, Genotype, Heterozygote, Humans, Male, Middle Aged, Pedigree, Phenotype, Polymorphism, Single-Stranded Conformational, Prognosis, Young Adult, Cytoskeletal Proteins genetics, Eye Proteins genetics, Glaucoma, Open-Angle genetics, Glycoproteins genetics, Mutation
- Abstract
Aims: To characterize genotype, phenotype, and age-related penetrance in a Swiss pedigree with juvenile open-angle glaucoma (JOAG)., Methods: In a large Swiss family with history of glaucoma and 82 living members of four generations, we conducted molecular analysis and a detailed phenotype characterization in 52 family members. Mutation analysis was carried out using single-strand conformation polymorphism and DNA sequence analyses of the suspected candidate gene, myocilin (MYOC)., Results: We detected a Gly367Arg mutation in the MYOC gene of 13 family members. Nine of them (69.2%) had glaucoma: mean IOP 35.3 mm Hg, range 24-50 mm Hg; mean age at diagnosis 34.9 years, range 28-51 years. Two mutation carriers were glaucoma suspects, one (age 15) was unaffected, and one (age 16) not available for clinical examinations. Age-related glaucoma penetrance was 50% at 30 and 78% at 40. Untreated IOP resulted in rapid disease progression, whereas good IOP control, usually only by means of filtration surgery, could stabilize the disease. None of the wild-type members had glaucoma., Conclusions: This Swiss family is the largest reported Gly367Arg pedigree to date. The exact genotype and phenotype characterization allowed a reliable risk and prognosis assessment and targeted eye-care planning for the family. The study demonstrates the importance of genetic investigations in glaucoma families, carrying the potential of long-term socio-economic benefits.
- Published
- 2008
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