PubMed · 1997 · 212 citations · 40 references
Life SciencesGeneticsOphthalmologyHuman GeneticsMedical GeneticsOcular GeneticsGlaucomaGenetic Causes Of GlaucomaPrimary Angle-closure GlaucomaPrimary Open-angle Glaucoma Pathophysiology
Glaucoma is the third-leading cause of blindness in the world, affecting >13.5 million people. Adult-onset primary open-angle glaucoma (POAG) is the most common form of glaucoma in the United States. We present a family in which adult-onset POAG is inherited as an autosomal dominant trait. Twelve affected family members were identified from 44 at-risk individuals. The disease-causing gene was mapped to chromosome 3q21-24, with analysis of recombinant haplotypes suggesting a total inclusion region of 11.1 cM between markers D3S3637 and D3S1744. This is the first report of mapping of an adult-onset POAG gene to chromosome 3q, gene symbol GLC1C.
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