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Familial exudative vitreoretinopathy

Disease definition

Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.

ORPHA:891

  • Synonym(s):
    • Criswick-Schepens syndrome
    • FEVR
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: H35.0
  • OMIM: 133780  305390  601813  605750  613310  616468
  • UMLS: C0339539  C1851402
  • MeSH: C536382
  • GARD: 1613
  • MedDRA: -

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