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Congenital stationary night blindness

Orpha number ORPHA215
Synonym(s) Congenital essential nyctalopia
Prevalence Unknown
Inheritance
  • Autosomal dominant
  • Autosomal recessive
  • X-linked recessive
Age of onset Neonatal/infancy
ICD-10
  • H53.6
OMIM
UMLS
  • C0339535
MeSH
  • C536122
MedDRA -
SNOMED CT
  • 232061009

Summary

Congenital stationary night blindness is an inherited retinal disorder that predominates on rods. It is a rare disease present at birth. Three types of transmission can be found: autosomal dominant, recessive, and X-linked recessive. The affection is heterogenous. The only symptom is hemeralopia with a moderate loss of visual acuity. Both the funduscopy and visual field are normal. In recessive forms, the b wave on the electroretinogram is not found in the scotoscopic study, while the a wave is normal and increases with light intensity. In dominant forms, the b wave is seen. Levels of rhodopsine are normal and regenerate normally. Signal transmission may be the affected function. There is no specific treatment.

Expert reviewer(s)

  • Dr Olivier ROCHE

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Detailed information

Clinical genetics review
  • EN (2012)
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