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[Persistent fetal vasculature syndrome--clinical image and diagnostic difficulties]

Monika Modrzejewska1, Ewelina Lachowicz, Danuta Karczewicz

  • 1Z Katedry i Kliniki Okulistyki Pomorskiego Uniwersytetu Medycznego w Szczecinie. oko@ams.edu.pl

Klinika Oczna
|March 6, 2012
PubMed

Insights

Persistent fetal vasculature syndrome (PFVS), also known as persistent hyperplastic primary vitreous body (PHPVB), presents with varied clinical signs in children. Early recognition is crucial for diagnosing this optic and systemic developmental defect.

Area of Science:

  • Ophthalmology
  • Pediatric Medicine
  • Medical Genetics

Context:

  • Persistent fetal vasculature syndrome (PFVS), also termed persistent hyperplastic primary vitreous body (PHPVB), is a congenital ocular anomaly.
  • This condition arises from the failure of fetal ocular vasculature to regress properly.
  • Understanding PFVS/PHPVB is critical for early diagnosis and management in infants and children.

Purpose:

  • To present and analyze cases of clinically differentiated persistent fetal vasculature syndrome (PFVS/PHPVB) in pediatric patients.
  • To highlight the characteristic clinical manifestations observed in the posterior form of PFVS/PHPVB.
  • To emphasize the importance of recognizing PFVS/PHPVB in the differential diagnosis of other developmental defects.

Summary:

  • Retrospective analysis of four children with posterior PFVS/PHPVB revealed diverse fundus changes, including fibrovascular tissue, retinoschisis, and persistent hyaloid artery.
  • Associated ocular findings included microphthalmia, congenital cataract, glaucoma, and intraocular hemorrhage.
  • Systemic associations like strabismus, nystagmus, and congenital heart defects were noted, while inflammatory and genetic causes were excluded.

Impact:

  • The study underscores the varied clinical presentation of PFVS/PHPVB, aiding in its accurate diagnosis.
  • Confirms the diagnosis through clinical symptoms and ancillary tests.
  • Recommends integrating PFVS/PHPVB recognition into the diagnostic workup for optic and systemic developmental abnormalities.
Abstract

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