Ae. Hughes et al., FINE LOCALIZATION OF THE GENE FOR CENTRAL AREOLAR CHOROIDAL DYSTROPHYON CHROMOSOME 17P, Journal of Medical Genetics, 35(9), 1998, pp. 770-772
Central areolar choroidal dystrophy (CACD) is a retinal disease which
causes progressive profound loss of vision in patients during middle a
ge. The disease is inherited as an autosomal dominant trait and shows
genetic heterogeneity. Mutations in the peripherin-RDS gene on chromos
ome 6 have been reported in affected members of families transmitting
the disease. A new locus at chromosome 17p13 was identified recently b
y a genome wide Linkage search in members of a large Northern Irish fa
mily. We now report the refinement of the critical region for this gen
e to an interval of approximately 5 cM flanked by polymorphic markers
D17S1810 and CHLC GATA7B03.