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Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter

Version 2 2025-03-18, 23:58
Version 1 2023-05-21, 20:08
journal contribution
posted on 2025-03-18, 23:58 authored by AC Cohn, LS Kearns, R Savarirayan, J Ryan, JE Craig, David MackeyDavid Mackey
PURPOSE: To present a case of congenital glaucoma with an unbalanced translocation trisomy 8q22-qter/monosomy 9p23-pter, resulting in trisomy of the GLC1D locus. To perform a literature review of chromosomal abnormalities associated with glaucoma. METHOD: A case report of a family with balanced translocation without glaucoma and unbalanced translocation with congenital glaucoma. PubMed and OMIM databases were searched for reports of chromosomal abnormalities and glaucoma. RESULTS: Other case reports of congenital glaucoma with chromosomal abnormalities in this region were identified. A review of cytogenetics in southeastern Australia found nine cases involving the loss of 9p23 and 10 cases involving mosaicism for trisomy 8, but none had congenital glaucoma. A review of the literature identified reports of glaucoma and chromosomal abnormalities in regions with glaucoma loci mapped by conventional linkage analysis. These include the loci GLC1B, GLC1C, GLC1D, GLC1F, GPDS1, and RIEG2. CONCLUSION: The study of patients with glaucoma and chromosomal abnormalities may help to identify new glaucoma genes. Ophthalmologists can assist with this by requesting cytogenetic studies on congenital and developmental glaucoma cases and interacting with ophthalmic genetics researchers.

History

Publication title

Ophthalmic Genetics

Volume

26

Issue

1

Pagination

45-53

ISSN

1381-6810

Department/School

Medicine

Publisher

Taylor & Francis

Publication status

  • Published

Place of publication

The Netherlands

Socio-economic Objectives

200199 Clinical health not elsewhere classified

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