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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.
Abstract:
Leukocoria in children should always raise the concern for retinoblastoma. However, a variety of non-neoplastic conditions can also present with leukocoria, including persistent fetal vasculature (PFV), a nonhereditary, congenital anomaly caused by a failure of the fetal intraocular vasculature to regress during development. Classically PFV presents with features that make it easily distinguishable from retinoblastoma, including microphthalmia, retrolental fibrovascular membrane, central dragging of ciliary processes, and cataract. We present an atypical case of PFV in a 9-month-old boy who presented with the unusual features of axial myopia and platyphakia.
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