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Congenital stationary night blindness

ORPHA215
Synonym(s) Congenital essential nyctalopia
Prevalence Unknown
Inheritance X-linked recessive
or Autosomal dominant
or Autosomal recessive
Age of onset Neonatal
ICD-10
  • H53.6
OMIM
UMLS
  • C0339535
MeSH
  • C536122
MedDRA -

Summary

Congenital stationary night blindness (CSNB) refers to a non-progressive group of retinal disorders that is characterized by night or dim light vision disturbance or delayed dark adaptation, poor visual acuity (ranging from 20/30 to 20/200), myopia (ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D), nystagmus, strabismus, normal color vision and fundus abnormalities. Two forms of CSNB are recognized: complete and incomplete CSNB (CSNB1 and CSNB2 respectively).


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Detailed information

Clinical genetics review
  • EN (2012)
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