Persistent fetal vasculature presenting with axial elongation and platyphakia

James Lin1, Manuel Paez-Escamilla1, Laila E Teira1

  • 1Ocular Oncology Service, Bascom Palmer Eye Institute, Miami, Florida.

Insights

Persistent fetal vasculature (PFV) can mimic retinoblastoma in children. This case highlights atypical PFV presentations, including myopia and platyphakia, emphasizing the need for careful diagnosis.

Area of Science:

  • Ophthalmology
  • Pediatric Ophthalmology
  • Congenital Ocular Anomalies

Background:

  • Leukocoria in children necessitates ruling out retinoblastoma.
  • Persistent fetal vasculature (PFV) is a congenital anomaly mimicking retinoblastoma.
  • Typical PFV presents with microphthalmia, retrolental fibrovascular membrane, and cataract.

Observation:

  • A 9-month-old boy presented with leukocoria.
  • The patient exhibited axial myopia and platyphakia.
  • These features are atypical for classic PFV presentation.

Findings:

  • The case demonstrates an unusual presentation of PFV.
  • Axial myopia and platyphakia were key atypical features.
  • Distinguishing PFV from retinoblastoma remains critical.

Implications:

  • This case expands the differential diagnosis of leukocoria.
  • Awareness of atypical PFV presentations is crucial for accurate diagnosis.
  • Early and correct diagnosis prevents unnecessary treatment for retinoblastoma.

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