X-LINKED RECESSIVE PRIMARY RETINAL DYSPLASIA IS LINKED TO THE NORRIE DISEASE LOCUS

X-linked primary retinal dysplasia (PRD) refers to an abnormal prolife ration of retinal tissue causing either its neural elements or its gli al tissue to form folds, giving rise to gliosis. A Jewish family of or iental origin was previously reported by Godel and Goodman, in which a total of five males suffer from different degrees of blindness. The a uthors postulated that the described findings are distinguished from N orrie disease, since in this case no clinical findings, other than tho se associated with the eyes, were noticed in the affected males. In ad dition, two of the carrier females exhibit minimal eye changes. We hav e performed linkage analysis of the family using the L1.28, p58-1 and m27beta probes, and DXS426 and MAOB associated microsatellites. Our re sults map the gene responsible for the disorder between the MAOB and D XS426, m27beta and p58-1 loci, on the short arm of the X chromosome at Xp11.3, which suggest the possibility that the same gene is responsib le for both primary retinal dysplasia and Norrie disease.