persistent hyperplastic primary vitreous
Findings
No curated finding names persistent hyperplastic primary vitreous yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)
Definition from the Mondo Disease Ontology (MONDO:0019631), read 2026-09-29. CC BY 4.0.
Features
24 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Remnants of the hyaloid vascular systemHPOHP:0007968
- Obligate (100% of cases)
- CataractHPOHP:0000518
- Very frequent (80% to 99% of cases)
- Corneal opacityHPOHP:0007957
- Very frequent (80% to 99% of cases)
- LeukocoriaHPOHP:0000555
- Very frequent (80% to 99% of cases)
- MicrophthalmiaHPOHP:0000568
- Very frequent (80% to 99% of cases)
- Reduced visual acuityHPOHP:0007663
- Very frequent (80% to 99% of cases)
- Angle closure glaucomaHPOHP:0012109
- Frequent (30% to 79% of cases)
- Developmental cataractHPOHP:0000519
- Frequent (30% to 79% of cases)
- Glial remnants anterior to the optic discHPOHP:0030743
- Frequent (30% to 79% of cases)
- Hyaloid vascular remnant and retrolental massHPOHP:0030744
- Frequent (30% to 79% of cases)
- Persistent pupillary membraneHPOHP:0009917
- Frequent (30% to 79% of cases)
- Tractional retinal detachmentHPOHP:0007917
- Frequent (30% to 79% of cases)
Show the remaining 12
- AmblyopiaHPOHP:0000646
- Occasional (5% to 29% of cases)
- BlindnessHPOHP:0000618
- Occasional (5% to 29% of cases)
- BuphthalmosHPOHP:0000557
- Occasional (5% to 29% of cases)
- EpiphoraHPOHP:0009926
- Occasional (5% to 29% of cases)
- Hemorrhage of the eyeHPOHP:0011885
- Occasional (5% to 29% of cases)
- Macular hypoplasiaHPOHP:0001104
- Occasional (5% to 29% of cases)
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
7 names
Resolves to: persistent hyperplastic primary vitreous
- Also called
- congenital retinal detachmentncRNA diseasenon-syndromic congenital retinal non-attachmentpersistent fetal vasculature syndromepersistent foetal vasculature syndromePFVSPHPV