BASICS

DESCRIPTION

• Pathologic entity resulting from failure of the primary vitreous to regress

– Persistence and/or hypertrophy of the vessels within the primary vitreous can result new vessels in the posterior segment.

– There are three forms (1)[B]:

Anterior: there is a retrolental opacity, cataract, or elongation of the ciliary processes (2)[C].

Posterior: optic disc hypoplasia, a stalk emanating from the optic disc, a retinal fold, retinal dysplasia, retinal detachment

Combined: Both anterior and posterior manifestations

Pediatric Considerations

Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature (PFV), presents during infancy and is a failure of the primary vitreous and its vascular system to regress normally. Infants typically present with microphthalmia, cataracts, and retinal traction or dysplasia.

EPIDEMIOLOGY

PFV is very rare.

RISK FACTORS

No risk factors have been isolated at this point.

Genetics

• Most cases are sporadic.

• It can be inherited as in an autosomal dominant as well as an autosomal recessive (AR) fashion. In one family with AR PFV, a gene was isolated to 10q11–q21.

• PAX6 gene mutations were detected recently in patients with optic nerve malformations that included PFV.

PATHOPHYSIOLOGY

• As reported by Cloquet in 1818, it occurs because of a failure of the primary vitreous and the hyaloid vascular system to regress (3)[C].

• The primary vitreous forms around the 7th week of life and begins involuting by 20 weeks. These vessels should completely regress by the time of birth. Persistence of these vessels can result in PFV in both the anterior and/or posterior chambers.

ETIOLOGY

Unknown

COMMONLY ASSOCIATED CONDITIONS

• None at this time

• Bilateral PFV with retinal dysplasia can be indistinguishable from Norrie’s disease, a condition in which children can also have hearing loss or other CNS problems.

DIAGNOSIS

HISTORY

• Leukocoria in an infant

• The involved eye is often smaller than the other eye, and posterior lens opacity is present.

PHYSICAL EXAM

• No systemic changes are associated.

• It is most often unilateral.

• Cataract, posterior lens opacity, elongated ciliary process, and/or a stalk that extends from the lens posterior to the optic disc.

• The lens itself is clear anteriorly with an opaque posterior surface.

• The pupil may be difficult to dilate because of the anterior tunica vasculosa lentis (TVL).

• Microphthalmia

DIAGNOSTIC TESTS & INTERPRETATION

Lab

None generally necessary

Imaging

• B scan ultrasonography can show a stalk from the posterior pole anteriorly to the lens, microphthalmia and retinal detachment.

• CT scanning also can demonstrate the PFV membrane.

• The absence of calcification on CT scanning is an important point in differentiating PFV from retinoblastoma, as calcification usually can be seen with retinoblastoma.

• MRI is superior to CT in differentiating noncalcified retinoblastoma from PFV.

• Visual evoked potential testing is helpful. If a response is present, surgery for retinal detachment repair might be worthwhile.

Diagnostic Procedures/Other

Pathological Findings

PFV in the hyaloid canal

DIFFERENTIAL DIAGNOSIS

• Retinoblastoma

• Congenital cataract

• Norrie disease

• Walker–Warburg syndrome

• Trisomy

• If total retinal detachment and retrolental fibrous tissues are present, familial exudative retinopathy, incontinentia pigmenti, and retinopathy of prematurity should be included.

TREATMENT

SURGERY/OTHER PROCEDURES

• The decision to perform surgery may be based on the severity of PFV and whether or not the fundus can be visualized, the presence or absence of retinal detachment, and the degree of cataract.

• Surgery often offers a greater chance of obtaining better visual acuity.

• Patients should be concomitantly treated for amblyopia.

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Patients will need monitoring regardless of whether observation or surgical intervention is chosen.

PROGNOSIS

• Prognosis depends on the extent of the membrane as well as the type of PFV.

• In purely anterior PFV, a good visual outcome is achieved when the visual axis is clear and amblyopia therapy are successful.

• Treatment of posterior and combined anteroposterior PFV has a less favorable outcome, with most patients attaining hand motion or light perception.

COMPLICATIONS

• Glaucoma

• Hemorrhage

• Enucleation

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