X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus

• Published in: Human molecular genetics 1993-08, Vol.2 (8), p.1295-1297
• Main Authors: Ravia, Yehoshua, Braier-Goldstein, Orly, Bat-Miriam, Katznelson Mariassa, Erlich, Shai, Barkai, Gad, Goldman, Boleslaw
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; Blindness - genetics; Blotting, Southern; Female; genes; Genes, Recessive; Genetic Carrier Screening; Genetic Linkage; Humans; Jews - genetics; linkage analysis; Male; Malformations of the eye; man; Medical sciences; Norrie disease; Ophthalmology; Polymerase Chain Reaction; primary retinal dysplasia; Repetitive Sequences, Nucleic Acid; Retina - abnormalities; Retinal Dysplasia - genetics; X Chromosome
• ISSN: 0964-6906; 1460-2083
• DOI: 10.1093/hmg/2.8.1295

X-linked primary retinal dysplasia (PRD) refers to an abnormal proliferation of retinal tissue causing either its neural elements or its glial tissue to form folds, giving rise to gliosis. A Jewish family of oriental origin was previously reported by Godel and Goodman, in which a total of five males suffer from different degrees of blindness. The authors postulated that the described findings are distinguished from Norrie disease, since in this case no clinical findings, other than those associated with the eyes, were noticed in the affected males. In addition, two of the carrier females exhibit minimal eye changes. We have performed linkage analysis of the family using the L1.28, p58-1 and m27β probes, and DXS426 and MAOB associated microsatellites. Our results map the gene responsible for the disorder between the MAOB and DXS426, m27β and p58-1 loci, on the short arm of the X chromosome at Xp11.3, which suggest the possibility that the same gene is responsible for both primary retinal dysplasia and Norrie disease.