PanOph

Persistent fetal vasculature (PFV)

Pediatric Ophthalmology

Key Points

  • •PFV is the preferred modern term (replaces PHPV); caused by failure of regression of the hyaloid vascular system — affecting full-term infants, unilateral in 90%, with microphthalmia
  • •Leukocoria and microphthalmia in a full-term infant is PFV until proven otherwise — but retinoblastoma must be excluded first (B-scan: no calcification in PFV vs calcification in 95% of retinoblastomas)
  • •Elongated ciliary processes drawn centrally is the pathognomonic clinical sign of anterior PFV on indirect ophthalmoscopy
  • •Surgical management (lensectomy + vitrectomy) can preserve the eye; vision is limited primarily by amblyopia — post-operative patching is as important as surgery
  • •Bilateral PFV mandates systemic workup — consider Norrie disease (NDP gene, X-linked), trisomy 13, and Walker-Warburg syndrome
  • •Anterior PFV has a better surgical and visual prognosis than posterior PFV (macular fold/foveal aplasia = unmodifiable structural limit)
1. Definition

Persistent fetal vasculature (PFV) — previously known as persistent hyperplastic primary vitreous (PHPV) — is a congenital developmental anomaly resulting from failure of normal regression of the fetal hyaloid vascular system. It encompasses a spectrum of anterior, posterior, and combined fibrovascular remnants associated with the hyaloid artery and its branches. PFV is typically unilateral and associated with microphthalmia. It is an important cause of leukocoria and must be distinguished from retinoblastoma. Surgical intervention can preserve the eye structurally, but visual outcomes are limited by amblyopia and retinal abnormalities.

2. Epidemiology

PFV is rare; no reliable population-based incidence figures are established in published literature.

Unilateral in 90% of cases.

Sporadic in most cases — no consistent hereditary pattern; rare familial cases reported.

Equal sex distribution.

Affects full-term infants (unlike ROP, which affects premature infants) — important diagnostic differentiator.

Accounts for approximately 5% of leukocoria cases in children referred for evaluation (Taylor & Hoyt, 6th Ed).

Bilateral cases (10%) are associated with systemic conditions: Norrie disease (X-linked, NDP gene), trisomy 13, Walker-Warburg syndrome, FEVR.

3. Aetiology and causes

Failure of regression of the hyaloid vascular system:

  1. The hyaloid artery (a branch of the ophthalmic artery) runs from the optic disc through the vitreous to supply the posterior lens capsule during fetal development (4–6 weeks gestation onward; most prominent by 9–12 weeks)
  2. The tunica vasculosa lentis (a vascular network surrounding the lens) and the pupillary membrane supply the anterior lens
  3. Normally, these vessels regress completely by 37–40 weeks gestation via programmed apoptosis and macrophage clearance
  4. In PFV, this regression fails — remnants persist as a fibrovascular stalk from the optic disc to the posterior lens capsule, with associated fibrovascular tissue behind the lens (retrolental plaque)

Molecular basis:

  • VEGF signalling and programmed apoptosis regulate hyaloid vessel regression
  • Mutations or dysregulation of Norrie disease pseudoglioma (NDP) gene (Norrin ligand for Frizzled-4) can cause bilateral PFV as part of Norrie disease
  • Other implicated pathways: macrophage function (hyaloid macrophages clear regressing vessels)

Associated systemic conditions (especially bilateral PFV):

  • Norrie disease — X-linked recessive; NDP gene mutation; bilateral; deafness, intellectual disability
  • Trisomy 13 (Patau syndrome) — bilateral PFV, bilateral coloboma, holoprosencephaly
  • Walker-Warburg syndrome — lissencephaly, hydrocephalus, bilateral eye anomalies
  • FEVR — familial, FZD4/LRP5 mutations
  • Congenital rubella — in historical cases
4. Pathogenesis
  1. Hyaloid artery branches form at 6 weeks gestation and are most prominent at 9–12 weeks; they regress from 12 weeks onward.
  2. Failure of apoptosis-mediated regression → fibrovascular tissue persists in the vitreous (primary vitreous = the original vitreous filled by hyaloid vasculature and mesenchymal cells).
  3. The persistent stalk extends from the optic disc anteriorly to the posterior lens capsule — seen as Mittendorf dot (small white dot on the inferonasal posterior lens capsule = remnant of anterior hyaloid attachment).
  4. Fibrovascular tissue behind the lens contracts → traction on ciliary processes (elongated, white ciliary processes drawn centrally = classic anterior segment finding) → progressive lens opacification and wrinkling of the posterior capsule.
  5. Contraction of anterior retrolental membrane → lens-corneal touch → corneal decompensation.
  6. Shallow or closed anterior chamber from forward lens displacement.
  7. Persistent hyaloid circulation may cause vitreous haemorrhage.
  8. Microphthalmia: the eye is smaller than normal — thought to result from reduced intraocular pressure support during development (fetal vasculature normally contributes to eye growth).
  9. Posterior PFV: fibrovascular stalk contracts → macular fold, retinal dragging, optic disc anomaly → poor visual potential regardless of surgery.
5. Classification

Goldberg classification (1997) — anatomical:

Anterior PFV:

  • Fibrovascular tissue in the retrolental space/anterior vitreous
  • Posterior lens capsule involvement (cataract, wrinkling)
  • Elongated ciliary processes drawn towards central axis
  • Shallow anterior chamber
  • Risk: glaucoma (pupillary block, angle closure), lens-corneal touch
  • Relatively better surgical prognosis for vision

Posterior PFV:

  • Stalk from optic disc to posterior vitreous/posterior lens
  • Macular fold, vitreal stalk, subretinal haemorrhage
  • Optic disc anomaly (stalk attachment)
  • Absent foveal development (foveal aplasia)
  • Poor visual prognosis regardless of surgical intervention

Combined (mixed) PFV:

  • Both anterior and posterior components
  • Most common form — approximately 60% of cases
  • Worst prognosis

Severity (modified Pollard grading for surgical planning):

  • Grade 1: Small vascular remnant, clear lens, good VA potential
  • Grade 2: Vascular stalk, early lens opacity, moderate VA potential
  • Grade 3: Dense posterior capsule opacity, elongated ciliary processes, guarded VA potential
  • Grade 4: Total lens opacity, traction, retinal involvement — poor VA potential
6. Risk factors and associations

No consistent inherited risk factors for sporadic (90% unilateral) cases.

Bilateral cases — consider systemic associations:

  • Norrie disease (NDP gene, X-linked) — bilateral, male infant
  • Trisomy 13 — antenatal karyotype; associated holoprosencephaly, polydactyly
  • Walker-Warburg syndrome — neurological features (lissencephaly, hydrocephalus)
  • Congenital rubella (historical)
  • FEVR — family history; FZD4/LRP5/TSPAN12 mutations

Unilateral cases:

  • Sporadic; no specific risk factors identified
  • Full-term birth (a risk factor for ROP is absent)
  • Family history of PFV in rare familial cases
7. Clinical features

Presenting features:

  • Leukocoria (white pupillary reflex) — most common presenting sign; noticed by parents or on red reflex screening
  • Microphthalmia (small eye) — characteristic; present in most unilateral cases
  • Strabismus (from poor vision in affected eye)
  • Nystagmus (if bilateral or very poor vision from early life)

Anterior PFV signs (slit lamp and clinical):

  • Retrolental fibrovascular plaque — white membrane immediately behind the lens
  • Posterior lens capsule opacity (plaque) and wrinkling
  • Elongated ciliary processes (drawn centrally into vitreous — pathognomonic on fundal examination or B-scan)
  • Shallow anterior chamber (from forward lens-iris diaphragm displacement)
  • Vascularised posterior capsule — feeder vessels from hyaloid system visible on retro-illumination
  • Glaucoma risk: pupillary block, angle closure

Posterior PFV signs (fundal):

  • Hyaloid stalk from optic disc
  • Macular fold (tractional; from fibrovascular contraction)
  • Retinal detachment (tractional or rhegmatogenous — rare)
  • Optic disc anomaly (hypoplasia, tilted disc)
  • Subretinal haemorrhage
  • Absent foveal development (primary — worst for visual prognosis)

Red reflex exam:

  • Absent or distorted red reflex (dim, white, or asymmetric)
  • Red reflex must be performed at every newborn examination and well-child visit

B-scan ultrasound features:

  • Hyperechoic stalk from disc to posterior lens capsule
  • Persistent hyaloid channel as triangular or tubular echo
  • Microphthalmia (small axial length)
  • No calcification (distinguishes from retinoblastoma)
8. Investigations

Red reflex testing (Brückner test) — first-line screening:

  • Direct ophthalmoscope at 1 metre — compare both eyes simultaneously
  • Abnormal: absent, dim, white, asymmetric, or obscured red reflex
  • Positive test = urgent ophthalmology referral

B-scan ultrasonography — most important investigation:

  • Hyaloid stalk/tubular echo from disc to posterior lens
  • Microphthalmia: axial length ≤16 mm in neonates (normal ~17 mm at birth; defined as <19 mm at 1 year of age)
  • NO calcification — critical to distinguish from retinoblastoma (which has calcium in 95% of cases on ultrasound/CT)
  • Elongated ciliary processes on high-gain setting

CT orbit (without contrast):

  • Identifies calcification (retinoblastoma) vs absence (PFV)
  • Rarely needed once B-scan confirms PFV — but may be required to definitively exclude retinoblastoma
  • Microphthalmia visible on CT

MRI orbit:

  • Better soft tissue characterisation than CT
  • Demonstrates fibrovascular stalk, posterior segment involvement
  • Avoids ionising radiation — preferred over CT in young infants when possible
  • MRI finding: hyaloid stalk as linear structure in vitreous

Slit lamp examination under anaesthesia (EUA):

  • Posterior capsule wrinkling, retrolental plaque
  • Elongated ciliary processes
  • IOP measurement (glaucoma risk)
  • Corneal clarity

Anterior segment OCT:

  • Delineates posterior capsule involvement and retrolental tissue

Fluorescein angiography (FA):

  • Assess retinal vasculature in posterior PFV cases
  • Document vitreoretinal traction, macular fold

Systemic workup for bilateral cases:

  • Karyotype — trisomy 13 (bilateral with systemic features)
  • NDP gene sequencing — Norrie disease (X-linked; male; bilateral; hearing assessment)
  • Neuroimaging (MRI brain) — Walker-Warburg, Norrie disease
  • Paediatric genetics referral
9. Differential diagnosis

Leukocoria — critical differentials (by urgency):

Retinoblastoma (most critical exclusion — life-threatening):

  • Bilateral leukocoria (>30%) or unilateral
  • Solid calcified intraocular mass on B-scan — CALCIFICATION is key differentiator
  • Age 0–5 years
  • No microphthalmia; eye may be normal size or enlarged
  • Strabismus, pseudohypopyon
  • Refer immediately to oncology if calcified mass detected

Retinopathy of prematurity (ROP) Stage 4–5:

  • History of prematurity (BW ≤1500 g, GA ≤30 weeks)
  • Bilateral, peripheral avascular retina with tractional detachment
  • PFV is in full-term infant — prematurity absent

Familial exudative vitreoretinopathy (FEVR):

  • Full-term; bilateral peripheral avascular retina; family history
  • No stalk from optic disc to lens
  • Genetic mutations: FZD4, LRP5, TSPAN12

Congenital cataract:

  • White pupil from lens opacity
  • No retrolental plaque or microphthalmia (unless combined with PFV — PFV often causes secondary cataract)
  • May be bilateral; systemic workup needed

Norrie disease:

  • Bilateral vitreous haemorrhage, retinal dysplasia from birth
  • Male; X-linked; deafness, intellectual disability
  • NDP gene mutation

Coloboma:

  • Inferior notch of iris, lens, retina, or optic disc from failed choroidal fissure closure
  • White pupil if retinal coloboma extends to posterior pole
  • May be bilateral

Vitreous haemorrhage:

  • History of birth trauma (subarachnoid haemorrhage, Terson syndrome)
  • Resolves with time; no structural stalk
10. Complications

Ocular complications:

  1. Glaucoma (most common acute complication)
  • Pupillary block (posterior synechiae + shallow AC + forward lens displacement)
  • Angle closure (peripheral anterior synechiae from shallow AC)
  • Neovascular glaucoma (in vascularised retrolental stalk with rubeosis)
  • Requires urgent management — can cause buphthalmos if untreated
  1. Amblyopia (most important long-term visual complication)
  • Deprivation amblyopia: from dense posterior capsule opacity, anterior chamber depth change, media opacities
  • Strabismic amblyopia
  • Mandates optical rehabilitation even after surgery — patching essential
  1. Cataract
  • Posterior capsule wrinkling → posterior subcapsular cataract
  • May progress to complete lens opacification
  1. Vitreous haemorrhage
  • From leaky hyaloid vessels; spontaneous or from minor trauma
  • Obscures fundal view; may cause deprivation amblyopia
  1. Tractional retinal detachment
  • Posterior PFV: fibrovascular stalk contraction → detachment
  • Macular fold — a tractional macular detachment
  1. Corneal decompensation
  • From lens-corneal touch in severe anterior PFV with very shallow/flat AC
  1. Phthisis bulbi (end-stage)
  • From severe untreated glaucoma, retinal detachment, or progressive hypotony
  1. Poor visual potential from retinal/foveal dysgenesis
  • Posterior PFV: macular fold, foveal aplasia → structural limit on vision independent of treatment
11. Management

Goals of management:

  1. Preserve the eye (prevent phthisis/enucleation)
  2. Prevent glaucoma (urgent if present)
  3. Clear the visual axis (treat deprivation amblyopia)
  4. Optimise vision with optical rehabilitation and amblyopia treatment
  5. Monitor for complications

Conservative/medical management:

  • Observation for mild cases (small hyaloid remnant, Mittendorf dot, clear lens, no complications)
  • Optical correction — contact lens or spectacles for aphakia after lens removal or for anisometropia
  • Amblyopia treatment — patching of fellow eye (critical — most surgery-treated children still have severe amblyopia without dedicated patching)
  • IOP monitoring — regular tonometry; start anti-glaucoma drops if IOP elevated

Surgical management:

Indications for surgery:

  • Progressive cataract causing visual deprivation
  • Glaucoma risk from progressive shallowing of anterior chamber or pupillary block
  • Dense fibrovascular membrane threatening vision
  • Desire to preserve cosmetically acceptable eye

Surgical approach — lensectomy + anterior vitrectomy:

  • Pars plana lensectomy + vitrectomy (posterior approach) — standard surgical approach
  • Or anterior approach (limbal) in small eyes where posterior approach is difficult
  • Remove lens, posterior capsule, and anterior retrolental stalk under microscope
  • Haemostatically challenging — hyaloid stalk vessels may bleed significantly
  • IOL implantation: controversial in infants; most surgeons leave aphakic and correct with contact lens
  • If hyaloid stalk extends to disc: complete vitrectomy, peel stalk carefully to avoid optic disc avulsion

Glaucoma surgery:

  • If IOP uncontrolled on drops: trabeculectomy or tube-shunt (Ahmed FP8 for small eyes)

Surgical timing:

  • Aim to operate within the first few weeks to months of life if dense opacity or high glaucoma risk
  • Earlier surgery = better chance to prevent severe deprivation amblyopia
  • Posterior PFV: surgical benefit is limited; mainly to relieve traction and preserve globe

Post-operative care:

  • Aphakic contact lens fitting (often within 1–2 weeks of surgery)
  • Aggressive amblyopia treatment — patching of fellow eye from 2–4 hours daily up to 6+ hours depending on amblyopia severity (per ATS protocols)
  • Regular IOP monitoring
  • Refraction under cycloplegia every 3–6 months in early childhood (rapid refractive change)
  • Strabismus surgery if needed once vision optimised
  • Long-term follow-up throughout childhood and into adulthood
12. Prognosis

PFV visual prognosis is guarded to poor even with surgical treatment, primarily limited by:

  • Amblyopia (the principal cause of poor vision even in surgically successful eyes)
  • Retinal dysgenesis (macular fold, foveal aplasia) in posterior PFV — unmodifiable
  • Severity of posterior segment involvement

Anterior PFV (better prognosis):

  • With early surgery (within weeks) + aggressive amblyopia treatment: 30–50% may achieve VA ≥6/60; occasional patients achieve 6/18 or better
  • Results highly variable — case reports and small series only; no large RCTs

Posterior PFV (poor prognosis):

  • Macular fold or foveal aplasia: structural limit on VA regardless of surgery
  • Most achieve only light perception (LP) or hand movements (HM)

Combined PFV:

  • Intermediate prognosis; goal often to preserve cosmetically acceptable eye and prevent phthisis

Predictors of poor prognosis:

  • Severity of microphthalmia (smaller eye = worse)
  • Macular fold or posterior involvement
  • Late presentation (advanced deprivation amblyopia)
  • Bilateral disease
  • Poor compliance with amblyopia treatment

Globe preservation:

  • Surgery preserves the eye structurally in most cases, reducing risk of phthisis
  • Cosmetic appearance is improved even when functional vision is poor

Long-term:

  • Regular monitoring for glaucoma throughout childhood and adulthood
  • Contralateral eye at low risk in sporadic unilateral cases

Clinical Pearls

1
PFV was renamed from PHPV (persistent hyperplastic primary vitreous) in 1997 (Goldberg) to better reflect the full spectrum — the primary vitreous is not always hyperplastic, but the fetal vasculature always persists. Expect both terms in exams.
2
The classic B-scan finding is a triangular or tubular echogenic stalk from the optic disc to the posterior lens capsule with NO calcification. This single finding — absence of calcification — is what distinguishes PFV from retinoblastoma.
3
Mittendorf dot — a small white dot on the inferonasal posterior lens capsule — is a common incidental finding in adults, representing a mild remnant of the hyaloid stalk at the lens attachment. It requires NO treatment. Distinguish from the full retrolental plaque of PFV.
4
Ciliary processes are visible only when they are pulled centrally by vitreous traction (normally they are hidden behind the iris). Elongated, centrally displaced ciliary processes visible on fundal examination = pathognomonic of posterior traction in PFV — like tentacles reaching for the centre.
5
Surgery in PFV is like pruning: you remove the fibrovascular stalk and clear the lens, but you cannot restore a fovea that never developed. For posterior PFV with macular fold, the goal is globe preservation, not sight restoration.
6
Amblyopia treatment compliance is the single most important prognostic factor for vision in surgically treated PFV. A beautiful surgery with no patching = deprivation amblyopia = poor vision. Tell the family: the surgery is only half the battle.
7
Exam Trap: PFV (persistent fetal vasculature) — unilateral leukocoria with microphthalmos — this combination distinguishes PFV from retinoblastoma, which presents with a normal or enlarged globe. Small eye + white pupil = PFV until proven otherwise.
8
Exam Trap: Mittendorf dot (anterior remnant) vs Bergmeister papilla (posterior remnant) — both are benign remnants of the hyaloid vascular system requiring no treatment. Distinguish from full PFV which has a dense fibrovascular stalk, retrolental plaque, and elongated ciliary processes requiring surgical intervention.
9
Exam Trap: PFV is non-hereditary (sporadic in 90% of cases) and non-malignant — these are the two key distinguishing features from retinoblastoma in the leukocoria differential. Retinoblastoma can be hereditary (bilateral, autosomal dominant RB1 mutation) and is malignant (life-threatening).

Oral-exam questions

  • What is the difference between PFV and PHPV? — They are the same condition. PHPV (persistent hyperplastic primary vitreous) was the historical term coined by Reese (1955). PFV (persistent fetal vasculature) was introduced by Goldberg (1997) because the pathology is the persistence of fetal vasculature (not all cases have hyperplasia of primary vitreous). Modern usage strongly favours PFV. Both terms may appear in exams.
  • What is the single most important investigation to distinguish PFV from retinoblastoma, and what do you look for? — B-scan ultrasound is the key investigation. In PFV: echogenic stalk from disc to posterior lens, no calcification, microphthalmia. In retinoblastoma: solid intraocular mass with calcification (present in ~95%). Absence of calcification effectively excludes retinoblastoma; presence mandates urgent oncology referral.
  • Name the pathognomonic clinical finding of anterior PFV on fundal examination. — Elongated, centrally displaced ciliary processes drawn towards the central vitreous by the fibrovascular stalk. Normally, ciliary processes are hidden behind the peripheral iris and invisible. In PFV, fibrovascular traction pulls them centrally, making them visible on indirect ophthalmoscopy — a pathognomonic sign.
  • Describe the Goldberg classification of PFV and its surgical implications. — Anterior PFV: retrolental plaque, posterior capsule involvement, elongated ciliary processes; surgical treatment (lensectomy + vitrectomy) can clear the visual axis; vision possible with aggressive amblyopia treatment. Posterior PFV: stalk from optic disc, macular fold, foveal aplasia; surgery for globe preservation, not vision restoration. Combined: mixed features; goal is globe preservation and what vision can be salvaged.
  • After successful surgery for anterior PFV, what is the single most important factor for visual outcome? — Aggressive amblyopia treatment — patching of the fellow eye. The surgery removes the physical obstruction, but deprivation amblyopia requires post-surgical optical rehabilitation (aphakic contact lens or spectacle correction) combined with intensive patching. Without it, surgery achieves nothing for vision. Early surgery + early patching is the optimal strategy.
  • Which systemic condition should you consider in a male infant with bilateral PFV, associated hearing impairment and intellectual disability? — Norrie disease — X-linked recessive disorder caused by mutations in the NDP gene (encoding Norrin, a ligand for Frizzled-4 receptor). Features: bilateral vitreoretinal dysplasia from birth, progressive sensorineural hearing loss, intellectual disability. NDP gene sequencing is diagnostic. Genetic counselling for the family is essential.

Mnemonics

HEMP — PFV vs Retinoblastoma Key Differences

H — Hyaloid stalk (PFV) vs solid mass (Retinoblastoma) E — Eye small (microphthalmia in PFV) vs Eye normal (RB) M — Minus Calcium (PFV = NO calcification) vs Mass with Calcium (RB = calcification 95%) P — Prematurity absent (PFV full-term) — Prematurity also absent in RB

Mittendorf vs PLAQUE

Mittendorf DOT = tiny, incidental, benign posterior capsule dot = no action PLAQUE = dense retrolental fibrovascular membrane = PFV = treat

NORMS — Bilateral PFV Associations

N — Norrie disease (NDP gene, X-linked, bilateral, deaf) O — Other: Walker-Warburg syndrome (lissencephaly) R — Rubella (congenital, historical) M — Monosomy/trisomy 13 (Patau syndrome) S — Sporadic (most PFV is sporadic unilateral — but bilateral = NORMS)

Comparison Tables

Goldberg Classification of PFV
Anterior PFV
Anatomical Location
Retrolental space, anterior vitreous
Key Features
Retrolental plaque, posterior capsule opacity, elongated ciliary processes, shallow AC
Prognosis
Guarded — 30–50% achieve 6/60 with aggressive treatment
Surgical Approach
Pars plana or limbal lensectomy + vitrectomy
Posterior PFV
Anatomical Location
Vitreous stalk from disc, posterior pole
Key Features
Macular fold, vitreoretinal stalk, optic disc anomaly, foveal aplasia
Prognosis
Poor — macular fold = structural limit; LP to HM
Surgical Approach
Vitrectomy to peel stalk; globe preservation goal
Combined (mixed)
Anatomical Location
Both anterior and posterior
Key Features
Features of both; most common
Prognosis
Poor to guarded
Surgical Approach
Combined lensectomy + complete vitrectomy
PFV vs Retinoblastoma — Critical Differential
Eye size
PFV
Microphthalmia (small eye)
Retinoblastoma
Normal or enlarged
Laterality
PFV
Unilateral (90%)
Retinoblastoma
Unilateral (60%) or bilateral (40%)
Calcification (B-scan/CT)
PFV
ABSENT
Retinoblastoma
PRESENT (~95%)
Age
PFV
Neonatal/infancy; full-term
Retinoblastoma
0–5 years; any birthweight
Vitreous stalk
PFV
Hyaloid stalk disc-to-lens
Retinoblastoma
Absent (solid intraocular mass)
Inflammation/haemorrhage
PFV
Variable — vitreous haemorrhage possible
Retinoblastoma
Pseudohypopyon, neovascularisation
Urgency
PFV
Non-urgent (plan surgery within months)
Retinoblastoma
URGENT — life-threatening; refer immediately
Management
PFV
Lensectomy + vitrectomy + amblyopia Rx
Retinoblastoma
Enucleation / chemoreduction / RTX / LSRT
Hyaloid Vascular System Development and Regression
Formation
Gestational Age
4–6 weeks
Hyaloid Vasculature Status
Hyaloid artery forms from ophthalmic artery; fills primary vitreous
Clinical Relevance
Failure of later regression = PFV
Maximum development
Gestational Age
9–12 weeks
Hyaloid Vasculature Status
Tunica vasculosa lentis surrounds lens; hyaloid artery at maximum
Clinical Relevance
Peak vascular density — most vulnerable period
Regression begins
Gestational Age
12–16 weeks
Hyaloid Vasculature Status
Programmed apoptosis; macrophage clearance begins
Clinical Relevance
Failure at this stage → PFV
Near-complete regression
Gestational Age
28–30 weeks
Hyaloid Vasculature Status
Only Mittendorf dot and small Bergmeister papilla remnants
Clinical Relevance
Premature infants may still have visible hyaloid
Full-term (normal)
Gestational Age
37–40 weeks
Hyaloid Vasculature Status
Complete regression; Mittendorf dot may persist (benign)
Clinical Relevance
Mittendorf dot = incidental finding; no treatment needed
Prematurity risk
Gestational Age
<37 weeks
Hyaloid Vasculature Status
May have more vessels remaining; hyaloid canal visible on ultrasound
Clinical Relevance
Distinguish from PFV — no fibrovascular plaque or elongated ciliary processes
Leukocoria Differential Diagnosis in Children
Retinoblastoma
Age
0–5 years
Uni/Bilateral
Uni (60%) / Bilateral (40%)
Calcification
YES (95%)
Microphthalmia
No
Key Investigation
B-scan + CT — URGENT
PFV
Age
Neonatal
Uni/Bilateral
Unilateral (90%)
Calcification
NO
Microphthalmia
YES
Key Investigation
B-scan (stalk), MRI
Congenital cataract
Age
Any
Uni/Bilateral
Bilateral (50%)
Calcification
No
Microphthalmia
Possible (combined)
Key Investigation
Slit lamp, B-scan
ROP Stage 4–5
Age
Premature infant
Uni/Bilateral
Bilateral
Calcification
No
Microphthalmia
Possible
Key Investigation
Indirect ophthalmoscopy; history
FEVR
Age
Full-term
Uni/Bilateral
Bilateral
Calcification
No
Microphthalmia
No
Key Investigation
FFA; genetics
Coloboma
Age
Neonatal
Uni/Bilateral
Unilateral/bilateral
Calcification
No
Microphthalmia
No
Key Investigation
Fundal exam; karyotype
Norrie disease
Age
Neonatal (male)
Uni/Bilateral
Bilateral
Calcification
No
Microphthalmia
Possible
Key Investigation
NDP gene; MRI brain
Vitreous haemorrhage
Age
Any
Uni/Bilateral
Unilateral
Calcification
No
Microphthalmia
No
Key Investigation
B-scan

Self-Assessment (5)

MCQ

A 2-week-old full-term infant presents with leukocoria and a smaller right eye compared to the left. B-scan ultrasound of the right eye shows an echogenic stalk from the optic disc to the posterior lens capsule with no calcification. What is the most likely diagnosis?

MCQ

Which of the following is the pathognomonic clinical sign of anterior persistent fetal vasculature on fundal examination?

MCQ

A 3-month-old boy is found to have bilateral leukocoria. Examination shows bilateral vitreous haemorrhage and total retinal dysplasia. He subsequently develops sensorineural hearing loss. Which diagnosis is most likely?

MCQ

In PFV, the most important long-term treatment after surgical removal of the fibrovascular stalk and lens is:

MCQ

Which feature on B-scan ultrasound most reliably distinguishes PFV from retinoblastoma?

References

  1. Goldberg MF. Persistent fetal vasculature (PFV): an integrated interpretation of signs and symptoms associated with persistent hyperplastic primary vitreous (PHPV). Am J Ophthalmol. 1997;124(5):587-626.
  2. Reese AB. Persistent hyperplastic primary vitreous. Am J Ophthalmol. 1955;40(3):317-331.
  3. Shastry BS. Persistent hyperplastic primary vitreous: congenital malformation of the eye. Clin Experiment Ophthalmol. 2009;37(9):884-890.
  4. Haddad R, Font RL, Reeser F. Persistent hyperplastic primary vitreous. A clinicopathologic study of 62 cases and review of the literature. Surv Ophthalmol. 1978;23(2):123-134.
  5. Taylor D, Hoyt CS. Pediatric Ophthalmology and Strabismus, 6th Edition. Elsevier, 2017.
  6. Berrocal AM, Scott IU, Murray TG, et al. Outcomes of vitreoretinal surgery in patients with persistent fetal vasculature. Retina. 2002;22(6):772-778.
  7. AAO Preferred Practice Pattern: Pediatric Eye Evaluations (2017).
  8. Ehlers JP, Shah CP. The Wills Eye Manual: Office and Emergency Room Diagnosis and Treatment of Eye Disease, 8th Edition.

Related Content

LeukocoriaPediatric GlaucomaPediatric CataractAmblyopiaRetinopathy of Prematurity
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