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persistent hyperplastic primary vitreous, autosomal recessive

Disease Summary
Associated Targets (2)


Mondo Description Autosomal recessive form of persistent hyperplastic primary vitreous.
Uniprot Description A developmental eye malformation associated with microphthalmia, cataract, glaucoma, and congenital retinal non-attachment. It is due to failure of the primary vitreous to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. Disease manifestations range from a trivial remnant of hyaloid vessels to a dense fibrovascular mass causing lens opacity and retinal detachment.
Mondo Term and Equivalent IDs
MONDO:0009097:  persistent hyperplastic primary vitreous, autosomal recessive