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Retinitis pigmentosa

Orpha number ORPHA791
Synonym(s) -
Prevalence 1-5 / 10 000
Inheritance
  • Autosomal dominant
  • Autosomal recessive
  • X-linked recessive
  • Mitochondrial inheritance
Age of onset Variable
ICD-10
  • H35.5
OMIM
UMLS
  • C0035334
MeSH
  • D012174
MedDRA
  • 10038914
SNOMED CT
  • 28835009

Summary

Retinitis pigmentosa (RP) represents a group of rare inherited ocular disorders of the photoreceptors or the retinal pigment epithelium leading to progressive profound loss of vision or blindness. The clinical manifestations are highly variable.


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Detailed information

Summary information
Review article
  • EN (2006)
Guidance for genetic testing
  • EN (2012,pdf)
Article for general public
  • FR (2007,pdf)
Clinical genetics review
  • EN (2012)
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