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Norrie Disease

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Katherine B. Sims, MD, Director, Developmental Neurogenetics Clinic, Massachusetts General Hospital and Associate Professor of Neurology, Harvard Medical School, for assistance in the preparation of this report.

Synonyms of Norrie Disease

  • Anderson-Warburg syndrome
  • atrophia bulborum hereditaria
  • episkopi blindness
  • fetal iritis syndrome
  • ND
  • NDP
  • Norrie syndrome
  • Whitnall-Norman syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Norrie disease is a rare X-linked disorder that occurs due to errors or disruption (mutations) of the NDP gene.

All males are affected by loss of vision present at birth or shortly thereafter. Additional symptoms may occur in some cases, although this varies even among individuals in the same family. Most affected individuals develop hearing (auditory) loss which is progressive of many years and some may exhibit cognitive abnormalities such as developmental delays or behavioral issues. Mental retardation may occur in some cases.

Several disorders can occur due to mutation of the NDP gene including persistent hyperplastic primary vitreous (PHPV), X-linked familial exudative vitreoretinopathy (X-linked-FEVR), and some cases of retinopathy of prematurity (ROP) and Coats disease. These disorders represent a spectrum of disease associated with the NDP gene. Each of these disorders can also occur secondary to mutations in other genes.

Organizations related to Norrie Disease

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