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

Yehoshua Ravia*, Orly Braier-goldstein, Katznelson Mariassa Bat-miriam, Shai Erlich, Gad Barkai, Boleslaw Goldman

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)1295-1297
Number of pages3
JournalHuman Molecular Genetics
Issue number8
StatePublished - Aug 1993
Externally publishedYes


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