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last update : 04-03-2009
Symbol GLSPS
Location 11p13
Name Gillespie syndrome
Corresponding gene PAX6
Main clinical features
  • aniridia, cerebellar ataxia, and mental deficiency
  • fixed dilated pupils in a hypotonic infant (the iris abnormality specific and pathognomonic for Gillespie syndrome)
  • on slit lamp examination, the pupil border of the iris typically shows a scalloped 'festooned' edge with tufts of iris strands extending onto the anterior lens surface at regular intervals
  • on brain MRI, cerebellar hypoplasia, particularly of the vermis
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease