Norrie disease

Dr Yuranga Weerakkody and Dr Henry Knipe et al.

Norrie disease is a rare X-linked inherited cause of congenital bilateral blindness. It can present with a retinal mass (pseudoglioma) and cataracts. It is associated with developmental delay and hearing loss. 

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Article information

rID: 43196
Section: Syndromes
Synonyms or Alternate Spellings:
  • Norrie's disease

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