BASICS

DESCRIPTION

• Persistent fetal vasculature (PFV) is usually a nonheritable set of vascular malformations in systemically normal infants.

• Usually unilateral

• Range of anterior segment and posterior segment complications possible

• Manifestations can range from mild to severe.

• Rare, serious congenital malformation syndromes affecting both eyes, the brain, and other parts of the body can also be associated with PFV.

• Persistent hyperplastic primary vitreous (PHPV) is a term describing a subset of clinical findings seen in the retrolental space.

EPIDEMIOLOGY

Uncommon

RISK FACTORS

Most cases are sporadic and not genetically linked. Rare associations exist (see below).

Genetics

• NDP-related retinopathies are characterized by a spectrum of fibrous and vascular changes of the retina at birth that progress through childhood or adolescence to cause varying degrees of visual impairment.

• The most severe phenotype is Norrie’s disease (ND), characterized by grayish-yellow fibrovascular masses (pseudogliomas). Congenital blindness is almost always present. Developmental delay/mental retardation, behavioral abnormalities, or psychotic-like features can be present. The majority develop sensorineural hearing loss.

• X-linked familial exudative vitreoretinopathy (XL-FEVR), an exudative proliferative vasculopathy characterized by peripheral retinal vascular anomalies with or without fibrotic changes and retinal detachment. Phenotypes can vary within families.

• Retinal dysplasia with changes like PFV can be associated Walker–Warburg syndrome, an autosomal recessive disorder, and with multiple anomalies in trisomy 13.

GENERAL PREVENTION

None

PATHOPHYSIOLOGY

Abnormal regression and persistence of normal embryologic vasculature alters the normal anatomy of the cornea, lens, angle, iris, retina, and/or optic nerve.

COMMONLY ASSOCIATED CONDITIONS

See Genetics

DIAGNOSIS

HISTORY

• Present at birth

• Presents in infancy commonly as leukocoria

PHYSICAL EXAM

Findings vary from case to case. Not all findings are present in all cases. An accumulation of findings make the case for diagnosis.

• Microphthalmia

• Anterior segment findings

– Microcornea

– Corneal clouding

– Persistent pupillary membrane

– Iridohyaloid blood vessels can lead to dragged ciliary processes, ectropion uvea, and lens subluxation.

– Persistence of the posterior fetal fibrovascular sheath and retrolental membrane

– Lens swelling and narrow angle

– Mittendorf’s dot

• Posterior segment findings

– Vitreous opacities—remnants of regressed vessels

– Persistent hyaloid artery

– Bergmeister’s papilla with the potential for anomalous optic nerve and macular traction

– Retinal detachment and folds

– Macular dysplasia; absence of the foveal pit

– Optic nerve dysplasia or hypoplasia

DIAGNOSTIC TESTS & INTERPRETATION

Imaging

• B-scan ultrasonography—can be used to identify and document persistent vascular anatomy tractional retinal abnormalities

• CT—Although tractional retinal changes and abnormal ocular anatomy may be visible, excluding the presence of intraocular calcium is most useful when retinoblastoma is a possibility.

• MRI—Can be useful in clarifying CT findings or identifying CNS disease in associated syndromes or disease

Diagnostic Procedures/Other

Fluorescein angiography may be useful in identifying the presence of persistent perfused fetal vessels.

Pathological Findings

Consistent with the spectrum of clinical disease

DIFFERENTIAL DIAGNOSIS

• Retinoblastoma

• Stage V retinopathy of prematurity

• ND

• Trisomy 13

• Congenital subluxation of the lens

• XL-FEVR

TREATMENT

ADDITIONAL TREATMENT

General Measures

• Mild cases may require no treatment.

• Severe cases can be so severely affected that no surgical treatment is reasonable.

• Patients should be counseled about protective eyewear.

SURGERY/OTHER PROCEDURES

• The decision to perform surgery should be based on the risks, benefits, and visual prognosis as related to the severity of the anatomical abnormalities.

• The surgical approach may require surgical expertise in both the anterior and posterior segments.

• Surgery should be considered for the following complications in eyes with some vision:

– Recurrent or severe vitreous hemorrhage

– Progressive retinal detachment

– Angle closure and ocular hypertension

– Anterior displacement of the lens or subluxation of the lens

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

• Ophthalmologist

• Coordinated care with pediatric ophthalmologist and vitreoretinal surgeon may also be necessary.

• Amblyopia and its prevention is a concern in any case with unilateral disease and vision in the affected eye.

PATIENT EDUCATION

• Monocular patients should be counseled to wear protective eyewear.

• Families with rare hereditary forms should receive genetic counseling.

PROGNOSIS

• The prognosis is variable and depends on the severity of the disease. Those patients with milder findings may not warrant any surgical intervention.

• Eyes with less severe disease remain at risk for amblyopia.

• More severe cases may have such advance disease that no treatment is effective.

• Patients with good vision and moderate disease are at risk for progression and complications as outlined below.

COMPLICATIONS

• Corneal clouding

• Progression of cataract

• Glaucoma

• Recurrent vitreous hemorrhage

• Progression of retinal traction and detachment

• Amblyopia

ADDITIONAL READING

• Goldberg MF. Lecture. Am J Ophthalmol 1997;124(5):587–626.

• Gulati N, Eagle RC Jr, Tasman W. Unoperated eyes with persistent fetal vasculature. Trans Am Ophthalmol Soc 2003;101:59–64; discussion 64–65.

• Sims KB. NDP-related retinopathies. In: GeneReviews [Internet]. Pagon RA, Bird TC, Dolan CR, Stephens K, eds. Seattle, WA) University of Washington, Seattle, 2009.

CODES

ICD9

743.51 Vitreous anomalies, congenital

CLINICAL PEARLS

• Usually unilateral

• Microphthalmia, microcornea, cataract, and dragging of ciliary processes are classic findings.

• Surgical choices and prognosis are influenced by status of retinal disease.

• Amblyopia threatens even the best surgical outcomes.

The views expressed in this article are those of the author and do not necessarily reflect the official policy or position of the Department of the Navy, Army, Department of Defense, nor the U.S. Government. I certify that all individuals who qualify as authors have been listed; each has participated in the conception and design of this work, the analysis of data (when applicable), the writing of the document, and the approval of the submission of this version; that the document represents valid work; that if we used information derived from another source, we obtained all necessary approvals to use it and made appropriate acknowledgements in the document; and that each takes public responsibility for it.

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