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The iris in Williams syndrome.

G Holmström1, G Almond, K Temple

  • 1Department of Ophthalmology, Hospital for Sick Children, London.

Archives of Disease in Childhood
|September 1, 1990
PubMed
Summary
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The stellate pattern in the iris is more common in children with Williams syndrome (WS) than in controls. This finding is important for diagnosing WS, especially with defined criteria and experienced clinicians.

Area of Science:

  • Ophthalmology
  • Genetics
  • Pediatrics

Background:

  • Williams syndrome (WS) is a genetic disorder with characteristic facial features and developmental delays.
  • Ocular abnormalities are common in WS, but specific iris patterns have not been fully characterized.
  • A stellate pattern in the iris has been anecdotally reported in WS.

Purpose of the Study:

  • To investigate the prevalence and diagnostic utility of a stellate iris pattern in children with Williams syndrome.
  • To compare the frequency of this pattern between WS patients and healthy controls.
  • To assess the influence of iris pigmentation and examiner experience on pattern detection.

Main Methods:

  • Iris photographs were obtained from 43 children with Williams syndrome and 124 control subjects.

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  • Photographs were independently evaluated by three ophthalmologists and four geneticists.
  • The presence and clarity of a stellate iris pattern were recorded, noting any difficulties in detection.

    • Main Results:

    • A stellate iris pattern was observed in 51% of children with Williams syndrome, compared to 12% in controls.
    • The pattern was more challenging to detect or absent in individuals with heavily pigmented irides.

    Conclusions:

    • The stellate iris pattern is a significant, though not universal, finding in Williams syndrome.
    • Careful definition of the pattern and examiner experience are crucial for its reliable identification.
    • This ocular finding may serve as a valuable, albeit supplementary, diagnostic marker for Williams syndrome.