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Helicoid peripapillary chorioretinal degeneration

Disease definition

Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.

ORPHA:86813

Classification level: Disorder
  • Synonym(s):
    • Atrophia areata
    • SCRA
    • Sveinsson chorioretinal atrophy
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: H31.2
  • ICD-11: 9B70
  • OMIM: 108985
  • UMLS: C1862382
  • MeSH: C566236
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2012) Español (2012) Nederlands (2012)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.