Orphanet: Persistent hyperplastic primary vitreous
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Persistent hyperplastic primary vitreous

Disease definition

A rare ophthalmic disorder characterized by mostly unilateral failure of the regression of a fetal ocular vessel component, the tunica vasculosa lentis and/or the hyaloid system, resulting in an anterior (presenting with microphthalmia, leukocoria, cataract, glaucoma, elongated ciliary processes, shallow anterior chamber, and retrolental fibrovascular membranes, among others) or posterior disease subtype (with microphthalmia, leukocoria, presence of a retinal fold or detachment, hypo- or dysplastic optic nerve, and vitreous membranes and stalk), respectively. Most patients present with a combination of the two subtypes.

ORPHA:91495

Classification level: Disorder
  • Synonym(s):
    • Congenital retinal detachment
    • NCRNA disease
    • Non-syndromic congenital retinal non-attachment
    • PFVS
    • PHPV
    • Persistent fetal vasculature syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q14.0
  • OMIM: 221900  611308
  • UMLS: C0266568  C1857299
  • MeSH: D054514
  • GARD: -
  • MedDRA: -

Detailed information

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