T. Jordan et al., FAMILIAL GLAUCOMA IRIDOGONIODYSPLASIA MAPS TO A 6P25 REGION IMPLICATED IN PRIMARY CONGENITAL GLAUCOMA AND IRIDOGONIODYSGENESIS ANOMALY, American journal of human genetics, 61(4), 1997, pp. 882-888
Familial glaucoma iridogoniodysplasia (FGI) is a form. of open-angle g
laucoma in which developmental anomalies of the iris and irido-corneal
angle are associated with a juvenile-onset glaucoma transmitted as an
autosomal dominant trait. A single large family with this disorder wa
s examined for genetic linkage to microsatellite markers. A peak LOD s
core of 11.63 at a recombination fraction of 0 was obtained with marke
r D6S967 mapping to chromosome 6p25. Haplotype analysis places the dis
ease gene in a 6.4-cM interval between the markers D6S1713 and D6S1600
. Two novel clinical appearances extend the phenotypic range and provi
de evidence of variable expressivity. The chromosome Gp25 region is no
w implicated in FGI, primary congenital glaucoma, and iridogoniodysgen
esis anomaly. This may indicate the presence of a common causative gen
e or, alternatively, a cluster of genes involved in eye development/fu
nction.