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[Bourneville's tuberous sclerosis. A case report].

A I Benatiya1, M A Bouayed, E Touiza

  • 1Service d'Ophtalmologie, CHU Hassan II, Fès, Maroc. cherdoc@hotmail.com

Journal Francais D'Ophtalmologie
|January 6, 2006
PubMed
Summary
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Bourneville's tuberous sclerosis (BTS) can affect the eyes, causing retinal astrocytic hamartomas. This case highlights a late diagnosis of retinal BTS, emphasizing slow progression and generally favorable outcomes.

Area of Science:

  • Ophthalmology
  • Genetics
  • Dermatology

Background:

  • Bourneville's tuberous sclerosis (BTS) is an autosomal dominant disorder causing benign tumors in various organs.
  • Tumors commonly manifest in the skin, kidneys, heart, brain, and eyes.
  • This report focuses on a rare case of late-diagnosed retinal BTS.

Observation:

  • A 28-year-old male with known BTS presented with bilateral retinal astrocytic hamartomas.
  • Ophthalmologic examination and fluorescein angiography confirmed the retinal lesions.
  • Facial angiofibromas were noted, but other systemic involvement was absent on imaging.

Findings:

  • Retinal astrocytic hamartomas, primarily located near the optic disc, are characteristic of BTS eye involvement.
  • These lesions typically demonstrate slow evolution and are often discovered incidentally.

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  • In this patient, the retinal lesions remained stable over a 6-year follow-up period.

    • Implications:

    • Early detection of retinal hamartomas in BTS patients is crucial for comprehensive management.
    • Understanding the slow progression of these lesions aids in patient counseling and monitoring.
    • While generally benign, potential complications warrant continued ophthalmologic surveillance in BTS patients.