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Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)
W L Alward1, J H Fingert, M A Coote
1Department of Ophthalmology, University of Iowa, Iowa City 52242, USA.
The New England Journal of Medicine
|April 16, 1998
Summary
Genetic mutations in the GLC1A gene are linked to primary open-angle glaucoma. These findings reveal a variety of mutations associated with glaucoma, impacting patients from juvenile to late-onset stages.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Glaucoma frequently has a genetic basis.
- Mutations in the chromosome 1 open-angle glaucoma gene (GLC1A), encoding myocilin, are implicated in glaucoma.
- The precise function of myocilin and how its mutations lead to glaucoma remain unclear.
Purpose of the Study:
- To investigate the role of the GLC1A gene in primary open-angle glaucoma.
- To identify sequence variations in the GLC1A gene associated with glaucoma.
Main Methods:
- Screening of 716 primary open-angle glaucoma patients and 596 control subjects for sequence changes in the GLC1A gene.
Main Results:
- Sixteen probable disease-causing mutations in the GLC1A gene were identified in 33 patients (4.6%).
- Six specific mutations were found in multiple subjects.
- Clinical data revealed a wide range of ages at diagnosis (8-77 years) and intraocular pressures (12-77 mm Hg) associated with these mutations.
Conclusions:
- Various mutations within the GLC1A gene are associated with glaucoma.
- The identified GLC1A gene mutations contribute to a spectrum of glaucoma, from juvenile forms to typical late-onset primary open-angle glaucoma.