Norrie disease
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Introduction
inherited eye disorder that leads to congenital or perinatal blindness.
Epidemiology
- extremely rare[3]
Pathology
- affects the retina
- cataracts
- leukocoria
- iris atrophy
Genetics
Clinical manifestations
- variable
- hearing loss very common in the 2nd decade of life
- learning disorder & behavioral disorder may occur
More general terms
References
- ↑ Genetics Home Reference: Norrie disease https://ghr.nlm.nih.gov/condition/norrie-disease
- ↑ Chau FY et al Norrie Disease EyeWiki https://eyewiki.aao.org/Norrie_Disease
- ↑ 3.0 3.1 Syn J et al Norrie Disease Knights Templar Eye Foundation, Pediatric Ophthalmology American Academy of Ophthalmology https://www.aao.org/disease-review/norrie-disease
Patient information
Norrie disease patient information