Juvenile glaucoma linked to the GLC1A gene on chromosome 1q in a Panamanian family.
case_series · Level IV
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Abstract
To characterize clinically and genetically autosomal dominant juvenile-onset primary open-angle glaucoma in a Panamanian family. Twenty members of a six-generation family underwent ophthalmologic examination and genetic screening with markers near the GLC1A gene on chromosome 1q. Linkage analysis disclosed evidence linking primary open-angle glaucoma in this family to the GLC1A gene on chromosome 1q, with a maximum lod score of 3.75 for marker D1S431 at an estimated recombination fraction of 0.00. This is the first report of a Panamanian family in which primary open-angle glaucoma is linked to the GLC1A gene on chromosome 1q.
Medical subject headings
- Chromosomes, Human, Pair 1
- Genetic Linkage
- Glaucoma, Open-Angle