GENETIC-LINKAGE OF AUTOSOMAL-DOMINANT JUVENILE GLAUCOMA TO 1Q21-Q31 IN 3 AFFECTED PEDIGREES

Glaucoma is a common disorder that results in irreversible damage to t he optic nerve, causing absolute blindness. In most cases, the optic n erve is damaged by an elevation of the intraocular pressure that is th e result of an abnormality in the normal drainage function of the trab ecular meshwork. A family history of glaucoma is an important risk fac tor for the disease, suggesting that genetic defects predisposing to t his condition are likely. Three pedigrees segregating an autosomal dom inant Juvenile glaucoma demonstrated significant linkage to a group of closely spaced markers on chromosome 1. These results confirm the ini tial mapping of this disease and suggest that this region on chromosom e 1 contains an important locus for juvenile glaucoma. We describe rec ombination events that improve the localization of the responsible gen e, reducing the size of the candidate region from 30 to 12cM. (C) 1994 Academic Press, Inc.