Persistent hyperplastic primary vitreous

What it is

From: Orphanet

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.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Cataract · Very frequent (99-80%)

A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

Corneal opacity · Very frequent (99-80%)

A reduction of corneal clarity.

Leukocoria · Very frequent (99-80%)

An abnormal white reflection from the pupil rather than the usual black reflection.

Microphthalmia · Very frequent (99-80%)

A developmental anomaly characterized by abnormal smallness of one or both eyes.

Remnants of the hyaloid vascular system · Obligate (100%)

Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.

Reduced visual acuity · Very frequent (99-80%)

Angle closure glaucoma · Frequent (79-30%)

A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact).

Developmental cataract · Frequent (79-30%)

A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.

Glial remnants anterior to the optic disc · Frequent (79-30%)

Persistence of a posterior remnant of the hyaloid artery located at the optic disc.

Hyaloid vascular remnant and retrolental mass · Frequent (79-30%)

A type of persistence of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract.

Persistent pupillary membrane · Frequent (79-30%)

The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil.

Tractional retinal detachment · Frequent (79-30%)

A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes, in the absence of a full-thickness retinal defect.

Amblyopia · Occasional (29-5%)

Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.

Blindness · Occasional (29-5%)

Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.

Other findings in the same source

From: Orphanet

Additional reported features include Buphthalmos (Occasional (29-5%)); Epiphora (Occasional (29-5%)); Hemorrhage of the eye (Occasional (29-5%)); Macular hypoplasia (Occasional (29-5%)); Microcornea (Occasional (29-5%)); Phthisis bulbi (Occasional (29-5%)); Retinal fold (Occasional (29-5%)); Shallow anterior chamber (Occasional (29-5%)); Strabismus (Occasional (29-5%)); Ectopic calcification (Very rare (<4-1%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Infancy; Neonatal

Inheritance in the source

From: Orphanet

Autosomal dominant; Autosomal recessive

Which doctor should you see?

The suggested department for discussing Persistent hyperplastic primary vitreous is Ophthalmology, with a ophthalmologist as the relevant type of clinician. Ophthalmologist; paediatric services for children as appropriate.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Which part of the eye or visual pathway is affected?
• What change in vision requires immediate contact with the eye service?
• What are the aims and alternatives of any proposed eye treatment?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Persistent hyperplastic primary vitreous. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.