Orphanet: Norrie disease

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Norrie disease

Disease definition

A rare developmental defect during embryogenesis characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.


Classification level: Disorder
  • Synonym(s):
    • Atrophia bulborum hereditaria
    • Episkopi blindness
    • Norrie-Warburg disease
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: H35.5
  • OMIM: 310600
  • UMLS: C0266526
  • MeSH: C537849
  • GARD: 7224
  • MedDRA: 10069760

Detailed information

Article for general public


The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.