Glaucoma is a significant cause of blindness world wide. There is evid
ence to suggest that at least a subset of the disease is determined ge
netically. We studied 37 members of a family affected with an autosoma
l dominant form of juvenile open angle glaucoma and 22 were found to b
e affected. Linkage analysis using short tandem repeat markers mapped
the disease-causing gene to chromosome 1q21-q31. Eight markers were si
gnificantly linked (Z(max) > 3.0) to the disease, with the highest lod
score 6.5 (theta=0), provided by D1S212. The atrial natriuretic pepti
de (ANP)/receptor system has been proposed to have a role in glaucoma
and one of the ANP receptor genes maps to chromosome 1q.