Abstract
Objective: To describe the clinical features and identify the molecular etiology of childhood-onset primary open angle glaucoma (POAG) in a Canadian kindred. Methods: Members of a Canadian Caucasian family with POAG were examined and DNA obtained. Single-strand conformation polymorphism analysis was performed using reported primers from exon 3 of the myocilin gene. A single-stranded conformation polymorphism was characterized by polymerase chain reaction-based sequencing. Results: Two affected half-sibs had onset of severe glaucoma at age 3 and 9. Their mother had lost vision in one eye from glaucoma by age 17. All three affected subjects had undergone bilateral glaucoma filtering surgery. Both fathers were unaffected. A single-stranded conformation polymorphism was identified in the mother and the two affected daughters and was absent in one father. A single base change from C→T at nucleotide position 1109 was identified in the affected members of the family by direct sequencing. This mutation, which causes a nonconservative amino acid change (Pro370Leu), was not found on 192 normal chromosomes from Caucasian individuals. Conclusion: We report a Canadian family with childhood-onset, severe POAG due to a mutation in the myocilin gene.
Original language | English |
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Pages (from-to) | 211-218 |
Number of pages | 8 |
Journal | Ophthalmic Genetics |
Volume | 20 |
Issue number | 4 |
DOIs | |
Publication status | Published - 1999 |
Externally published | Yes |
Keywords
- Mutation
- Myocilin
- Primary open angle glaucoma