Persistent hyperplastic primary vitreous

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Persistent hyperplastic primary vitreous

Synonyms: Congenital retinal detachment | NCRNA disease | Non-syndromic congenital retinal non-attachment | PFVS | PHPV | Persistent fetal vasculature syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version April 2024

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