Gillespie syndrome

Last revised by Daniel J Bell on 25 Dec 2018

Citation, DOI, disclosures and article data

Citation:

Bell D, Gillespie syndrome. Reference article, Radiopaedia.org (Accessed on 26 Apr 2024) https://doi.org/10.53347/rID-65142

DOI:

https://doi.org/10.53347/rID-65142

Permalink:

https://radiopaedia.org/articles/65142

rID:

65142

Article created:

25 Dec 2018, Daniel J Bell ◉

Disclosures:

At the time the article was created Daniel J Bell had no recorded disclosures.

View Daniel J Bell's current disclosures

Last revised:

25 Dec 2018, Daniel J Bell ◉

Disclosures:

At the time the article was last revised Daniel J Bell had no recorded disclosures.

View Daniel J Bell's current disclosures

Revisions:

1 time, by 1 contributor - see full revision history and disclosures

Systems:

Head & Neck, Paediatrics

Sections:

Syndromes

Synonyms:

Gillespie's syndrome

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.