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Start free with EleplanPersistent hyperplastic primary vitreous
ORPHA:91495Disease
Also called Congenital retinal detachment · NCRNA disease · Non-syndromic congenital retinal non-attachment · PFVS · PHPV · Persistent fetal vasculature syndrome
What it is
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.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant, Autosomal recessive
- Classified as
- Disease
Signs and symptoms
Common30–79%
6Sometimes5–29%
11- Amblyopia
- Blindness
- Buphthalmos
- Epiphora
- Hemorrhage of the eye
- Macular hypoplasia
- Microcornea
- Phthisis bulbi
and 3 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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