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  • Updated 06.01.2020
  • Released 11.19.2001
  • Expires For CME 06.01.2023

Norrie disease

Introduction

This article includes discussion of Norrie disease, atrophia bulborum hereditaria, Episkopi blindness, hereditary oculo-acoustic-cerebral degeneration, oculo-acousticocerebral degeneration, persistent hyperplastic primary vitreous, pseudoglioma, and X-linked familial exudative vitreoretinopathy. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.

Overview

Norrie disease is a rare, congenital X-linked recessive disorder of the eyes, particularly the retina of affected males, resulting in congenital blindness or progressive visual loss through childhood. Mutations in the NDP gene and absence of the NDP protein norrin are associated with altered development of retinal vasculature. Additional complications are sensorineural deafness, intellectual deficits, and psychosis or other behavioral problems. Information continues to be gained concerning the clinical variability, genetics, and pathogenetic mechanisms of this disease. Vitrectomy with or without lensectomy has benefited some patients.

Key points

• Norrie disease is a rare, congenital X-linked recessive disorder of the eyes, particularly the retina, of affected males, resulting in congenital blindness or progressive visual loss through childhood.

• Mutations in the NDP gene and absence of the NDP protein norrin are associated with altered development of retinal vasculature. Information continues to be gained concerning the phenotypic variability, genetics, and pathogenetic mechanisms of this disease.

• Additional complications are sensorineural deafness, seizures, intellectual deficits, autism, and psychosis or other behavioral problems. Other anomalies, particularly involving the CNS, have been reported.

• Vitrectomy with or without lensectomy has benefited some patients.

Historical note and terminology

In 1961 Warburg identified 7 patients from 7 generations of a Danish family as well as an additional 48 patients from 9 families described in the literature; she suggested the name Norrie disease, to reflect Norrie's earlier publication in 1933 (63; 106). The term “Episkopi blindness” derived from a study of a large Greek family (16 males in 5 generations) in Episkopi, Cyprus (98). Some early cases were labeled “pseudotumors” or “pseudoglioma,” but these are nonspecific terms reserved for conditions resembling retinoblastoma and are no longer considered appropriate diagnoses for this condition (67). Two conditions (persistent hyperplastic primary vitreous and familial exudative vitreoretinopathy) are part of the spectrum of Norrie disease. Berger and colleagues and Chen and colleagues isolated a candidate gene for Norrie disease (06; 14). In the following years, the NDP gene and a variety of mutations have been identified as causative (116; 70).

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