Gillespie syndrome

Last revised by Daniel J Bell on 25 Dec 2018

Gillespie syndrome is a rare genetic condition presenting as a mydriasis, secondary to an omnipresent partial aniridia. The abnormal iris is bilateral, with a highly-specific scalloped inner margin, due to hypoplasia of the central constrictor pupillae fibers. Associated features include an unchanging fixed hypoplasia of the cerebellum and ataxia, diminished intelligence, and congenital loss of muscle tone (hypotonia). The specific genetic defect is a mutation of the ITPR1 (inositol 1,4,5-trisphosphate receptor type 1) gene 1,2

History and etymology

Frederick D Gillespie (1927-fl.2018) an American ophthalmologist, described his eponymous condition in an adult brother and sister in 1965 3.


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