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Related Experiment Videos

Tuberous sclerosis. Diagnostic problems in a family.

D B van Dorp1, M L Kwee

  • 1Department of Ophthalmology, Free University of Amsterdam.

Ophthalmic Paediatrics and Genetics
|June 1, 1990
PubMed
Summary
This summary is machine-generated.

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Tuberous sclerosis (TS) can present with unusual ocular findings in mothers without symptoms. These findings complicate genetic counseling due to uncertainty about recurrence risk.

Area of Science:

  • Ophthalmology
  • Genetics
  • Neurology

Background:

  • Tuberous sclerosis (TS) is a genetic disorder affecting multiple organs.
  • Ocular manifestations of TS are known but can be variable.
  • Genetic counseling for TS is crucial for affected families.

Observation:

  • A family with a child diagnosed with tuberous sclerosis (TS) is presented.
  • The mother, asymptomatic for TS, exhibited optic nerve head drusen, tilted discs, and visual field defects.
  • Ocular examination revealed progressively increasing optic nerve head prominence and glistening spots.

Findings:

  • Fluorescein angiography confirmed lobular drusen of the optic nerve heads.
  • Electroretinography (ERG) demonstrated an absent B-wave.

Related Experiment Videos

  • The family history for TS was negative, raising questions about the etiology of the mother's ocular findings.

    • Implications:

    • The presence of these ocular findings in the mother raises questions about their classification as part of the TS syndrome.
    • If part of TS, the recurrence risk for subsequent children is 50%; if a spontaneous mutation, the risk is negligible.
    • Uncertainty regarding the genetic defect in TS hinders accurate genetic counseling and prenatal diagnosis.
    • Prenatal diagnosis of TS is challenging, though fetal ultrasonography of the heart has shown promise.