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Case report: tuberous sclerosis and persistent hyperplastic primary vitreous

Hayley Wong1, Sarah Bowie2, Shona Handisides2

  • 1Radiology Department, Middlemore Hospital, Auckland, New Zealand. hayley.hl.wong@gmail.com.

BMC Ophthalmology
|July 16, 2022
PubMed

Insights

This report details a rare case of persistent hyperplastic primary vitreous (PHPV) in an infant diagnosed with tuberous sclerosis (TS). This finding highlights a potential, though infrequently documented, association between these conditions.

Area of Science:

  • Ophthalmology
  • Genetics
  • Pediatrics

Background:

  • Persistent hyperplastic primary vitreous (PHPV) is a congenital condition affecting the eye's development.
  • Tuberous sclerosis (TS) is a genetic disorder that can affect multiple organs, including the brain and skin.
  • The co-occurrence of PHPV and TS is exceptionally rare, with only one prior case report in the literature.

Observation:

  • A case study of an 11-month-old male infant presenting with leukocoria, microphthalmia, and suspected PHPV.
  • The infant was diagnosed with tuberous sclerosis (TS) based on imaging findings, including a mass near the lens.
  • Ophthalmological examination confirmed microphthalmia, PHPV, and a retrolental mass, possibly a retinal hamartoma with detachment.

Findings:

  • This case represents the second documented instance of PHPV in a patient with TS.
  • The findings support a potential, albeit rare, association between TS and PHPV.
  • The study discusses the possible influence of abnormal globe development in PHPV on the location of retinal hamartomas in TS patients.

Implications:

  • This case contributes to the limited understanding of ocular manifestations in tuberous sclerosis.
  • Further research may elucidate the underlying mechanisms connecting TS and PHPV.
  • Increased awareness among clinicians may aid in the early diagnosis of this rare ocular condition in infants with TS.
Abstract

Keywords:
Case reportPersistent hyperplastic primary vitreousRetinal hamartomaTuberous sclerosis

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