Persistent hyperplastic primary vitreous
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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.
Synonyms: Persistent fetal vasculature syndrome PFVS Non-syndromic congenital retinal non-attachment PHPV Congenital retinal detachment NCRNA disease
Term information
- MeSH:D054514 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:Q14.0 (Attributed (The ICD10 code is attributed by Orphanet))
- OMIM:611308 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- UMLS:C0266568 (E (Exact mapping: the two concepts are equivalent))
- UMLS:C1857299 (E (Exact mapping: the two concepts are equivalent))
- OMIM:221900 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- ICD-10:Q14.0 (NTBT (ORPHA code's Narrower Term maps to a Broader Term))
Term relations
- disease
- present_in some Worldwide and has_point_prevalence_range some Unknown_epidemiological_range
- part_of some Syndromic genetic cataract
- has_inheritance some autosomal recessive
- has_inheritance some autosomal dominant
- part_of some Isolated vitreoretinopathy
- part_of some Syndromic cataract
- has_age_of_onset some infancy
- has_age_of_onset some neonatal