Childhood-onset primary open angle glaucoma in a Canadian kindred: Clinical and molecular genetic features

K. F. Damji, X. Song, S. K. Gupta, J. Gao, W. Rock, D. E. Bulman

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)

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 languageEnglish
Pages (from-to)211-218
Number of pages8
JournalOphthalmic Genetics
Volume20
Issue number4
DOIs
Publication statusPublished - 1999
Externally publishedYes

Keywords

  • Mutation
  • Myocilin
  • Primary open angle glaucoma

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