LOCALIZATION OF A GENE FOR CENTRAL AREOLAR CHOROIDAL DYSTROPHY TO CHROMOSOME 17P

Central areolar choroidal dystrophy (CACD) is a rare inherited retinal disease which causes progressive profound loss of vision in patients during their 4th decade. We have identified a Northern Irish family wi th 19 affected individuals in three living generations, We have perfor med a total genome search and established linkage of CACD in this fami ly to chromosome 17p (multipoint Z(max) = 5.65 at D17S938), The genes for phosphatidylinositol transfer protein (PITPN), retinal guanylate c yclase (GUC2D), beta-arrestin 2 (ARRB2), pigment epithelium-derived fa ctor (PEDF) and recoverin (RCV1) map to this region and are candidate genes for retinal disease, Analysis of the coding region of the PITPN gene failed to reveal any mutation in this family.