AGE-DEPENDENT PENETRANCE AND MAPPING OF THE LOCUS FOR JUVENILE AND EARLY-ONSET OPEN-ANGLE GLAUCOMA ON CHROMOSOME TO (GLC1A) IN A FRENCH FAMILY

The GLC1A locus for autosomal dominant primary open-angle glaucoma (PO AG) with juvenile onset (before 20 years) has been mapped to chromosom e 1q21-q31. Recently, a French-Canadian family was described in which both juvenile-onset and middle-age or early-onset POAG were observed a nd linked to GLC1A. We now describe a second POAG family with variable age of onset (range 11-51, median 36 years of age). Linkage to GLC1A was established with a maximum lod score of 6.21 at the D1S452 locus. A recombination event in a severely glaucomatous patient restricted th e distal boundary of the GLC1A interval proximal to the AFM154xc9 mark er. This study strengthens the idea that early-onset POAG may also be determined by the GLC1A genetic region.