C. Graff et al., FINE MAPPING OF THE GENE FOR AUTOSOMAL-DOMINANT JUVENILE-ONSET GLAUCOMA WITH IRIDOGONIODYSGENESIS IN 6P25-TEL, Human genetics, 101(2), 1997, pp. 130-134
Glaucoma is a group of ocular disorders leading to reduced visual capa
bilities and sometimes blindness. The biochemical defect is unknown bu
t it is shown that reduced drainage of the aqueous humour from the ant
erior chamber may lead to increased introcular pressure and gradual at
rophy of the optic neurons. Families with various forms of autosomal d
ominant (AD) glaucoma have been linked to 1q21-31, 2cen-q13, 4q25-27,
and 13q14 and autosomal recessive congenital glaucoma have been locali
zed to chromosome 1p36 and 2p21, Recently, a locus for AD iridogoniody
sgenesis anomaly (IGDA)was mapped to chromosome 6p25. This study refin
es the localization of IGDA to an approximately 6-cM interval between
D6S1600 and D6S 1617/D6S1713 at 6p25-teI, based on recombinations in a
ffected individuals with AD juvenile-onset glaucoma and concomitant ir
idogoniodysgenesis.