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Norrie disease

inherited eye disorder that leads to congenital or perinatal blindness. Epidemiology: - extremely rare [3] Pathology: - affects the retina - retinal detachment - cataracts - leukocoria - iris atrophy Genetics: - X-linked recessive inheritance Clinical manifestations: - variable - hearing loss very common in the 2nd decade of life - learning disorder & behavioral disorder may occur

General

genetic disease of the central nervous system

Database Correlations

OMIM 310600

References

  1. Genetics Home Reference: Norrie disease https://ghr.nlm.nih.gov/condition/norrie-disease
  2. Chau FY et al Norrie Disease EyeWiki https://eyewiki.aao.org/Norrie_Disease
  3. Syn J et al Norrie Disease Knights Templar Eye Foundation, Pediatric Ophthalmology American Academy of Ophthalmology https://www.aao.org/disease-review/norrie-disease