Living with Persistent hyperplastic primary vitreous
A rare eye condition, usually in one eye, in which a blood vessel from before birth doesn't go away.
Understanding Persistent hyperplastic primary vitreous
It usually affects one eye. It can affect the front of the eye, the back of the eye, or both. Signs include a small eye, a white pupil reflection (leukocoria), cataract, glaucoma, and sometimes a detached retina. It is noticed in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small eyeball (microphthalmia)
- White-looking pupil (leukocoria)
- Cloudy lens (cataract)
- Glaucoma (high eye pressure)
- Cloudy cornea
- Reduced clarity of vision
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the genes (also called variants) cause this condition. GARD lists both autosomal dominant and autosomal recessive inheritance and doesn't name a specific gene.
Also known as: congenital retinal detachment; congenital retinal septum; ncrna disease; non-syndromic congenital retinal non-attachment; persistent fetal vasculature; persistent fetal vasculature syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Persistent hyperplastic primary vitreous.
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