Disease - Persistent hyperplastic primary vitreous, autosomal recessive
- DefinitionA 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.
- AcronymPHPVAR
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- Cross references
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Browse 1 entry- Transcription factor ATOH7 · Gene: ATOH7 (ATH5, BHLHA13) · Homo sapiens (Human) · 152 amino acids · Evidence at protein level · Annotation score: 5/5