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