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Abstract #5554 Published in IGR 2-1
Childhood-onset primary open angle glaucoma in a Canadian kindred: clinical and molecular genetic features
Damji KF; Song X; Gupta SK; Gao J; Rock W; Bulman DEOphthalmic Paediatrics and Genetics 1999; 20:211-218
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-siblings had onset of severe glaucoma at the ages of three and nine years. Their mother had lost vision in one eye from glaucoma by the age of 17 years. 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: The authors report a Canadian family with childhood-onset, severe POAG due to a mutation in the myocilin gene.
Dr. K.F. Damji, Ottawa Hospital, University of Ottawa Eye Institute, Ottawa, Canada kdamji@ogh.on.ca
Classification:
1.2 Population genetics (Part of: 1 General aspects)
9.1 Developmental glaucomas (Part of: 9 Clinical forms of glaucomas)
