Related Experiment Video
Updated: Jul 17, 2026

Iris Fixation via External Pentagram Suturing
Published on: May 5, 2022
[Gillespie syndrome: an uncommon presentation of congenital aniridia]
A Defreyn1, J Maugery, S Chabrier
1Service d'Ophtalmologie, CHU, 42055 Saint Etienne Cedex, France. alex_defreyn@yahoo.fr
Abstract:
We report here the case of a patient suffering from Gillespie syndrome (GS) (partial aniridia, mental retardation, and cerebellar ataxia). The typical presentation is based on fixed dilated pupils in a hypotonic child. Iris abnormalities distinguish GS from other forms of aniridia. At the time of initial presentation, neurological involvement and radiologic abnormalities could be absent or delayed. Genetic determinism is still unknown. The pattern of inheritance seems to be heterogeneous, according to the autosomal recessive and autosomal dominant forms previously described.
Related Concept Videos
Pleiotropy
Photoreceptors and Visual Pathways
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Inborn Errors of Metabolism
Prosopagnosia
Glaucoma: Overview
