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Related Experiment Videos

Are optic disc drusen inherited?

R J Antcliff1, D J Spalton

  • 1Department of Ophthalmology, St Thomas' Hospital, London, England.

Ophthalmology
|July 16, 1999
PubMed
Summary
This summary is machine-generated.

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Family studies suggest optic disc drusen may stem from inherited optic disc dysplasia. This condition affects optic disc vasculature and cup formation, indicating a genetic predisposition.

Area of Science:

  • Ophthalmology
  • Genetics
  • Medical Imaging

Background:

  • Optic disc drusen are abnormal structures within the optic nerve head.
  • Their etiology and familial incidence are not fully understood.

Purpose of the Study:

  • To investigate the incidence of optic disc drusen and associated anomalies in relatives of affected individuals.
  • To explore the potential hereditary nature of optic disc drusen.

Main Methods:

  • Retrospective case series with prospective family examinations.
  • Utilized B-scan ultrasonography and color photography for diagnosis.
  • Examined 27 relatives of 7 probands with bilateral optic disc drusen.

Main Results:

  • Only 3.7% (1 of 27) of relatives presented with optic disc drusen.

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  • Anomalous vasculature was observed in 57% of examined eyes.
  • Absence of the optic disc cup was noted in 49% of eyes.

    • Conclusions:

    • Optic disc drusen are likely linked to an inherited dysplasia of the optic disc and its vasculature.
    • This suggests a genetic predisposition to optic disc drusen formation.