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Leber congenital amaurosis

Orpha number ORPHA65
Synonym(s) Amaurosis congenita of Leber
Prevalence 1-9 / 100 000
Inheritance Autosomal recessive
Autosomal dominant
Age of onset Infancy
Neonatal
ICD-10
  • H35.5
ICD-O -
OMIM
UMLS
  • C0339527
MeSH
  • D057130
MedDRA
  • 10070667
SNOMED CT
  • 193413001

Summary

Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness, nystagmus, roving eye movement and lack of detectable signals on an electroretinogram (ERG), leading to severe visual impairment within the first year of life.


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Detailed information

Summary information
Article for general public
  • DE (2013,pdf)
Clinical genetics review
  • EN (2013)
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