Download PDF
CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2020; 78(06): 383
DOI: 10.1590/0004-282X20200013
Images in Neurology

Aniridia as a clue for the diagnosis of Gillespie syndrome

Aniridia: dica clínica para o diagnóstico da síndrome de Gillespie
Flávio Moura REZENDE  FILHO
1   Universidade Federal de São Paulo, Departamento de Neurologia, Unidade de Ataxia, São Paulo SP, Brazil.
,
José Luiz PEDROSO 
1   Universidade Federal de São Paulo, Departamento de Neurologia, Unidade de Ataxia, São Paulo SP, Brazil.
,
Júlian Letícia de FREITAS 
1   Universidade Federal de São Paulo, Departamento de Neurologia, Unidade de Ataxia, São Paulo SP, Brazil.
,
Luis Fernando TEIXEIRA 
2   Universidade Federal de São Paulo, Departamento de Oftalmologia, Setor de Órbita, São Paulo SP, Brazil.
,
Orlando Graziani Povoas BARSOTTINI 
1   Universidade Federal de São Paulo, Departamento de Neurologia, Unidade de Ataxia, São Paulo SP, Brazil.
› Author Affiliations
› Further Information
Also available at
   Permissions and Reprints

A 23-year-old woman presented with global developmental delay and non-progressive ataxia since birth. Parents were consanguineous. On examination, she had dysarthria, nystagmus and ataxia. Ophthalmological evaluation showed absence of part of the iris or aniridia ([Figure 1]) and magnetic resonance imaging (MRI) pointed mild cerebellar atrophy. Genetic testing revealed homozygous mutations in ITPR1 gene and confirmed Gillespie syndrome.

Zoom Image
Figure 1 Ophthalmological findings in a 23-year-old woman with Gillespie syndrome. (A) Photograph of the right eye. (B) Slit-lamp examination. A thin rim of iridal tissue (arrow) results in a fixed and dilated appearance of the pupil, consistent with iris hypoplasia (A). Iridolenticular strands occurring at irregular intervals (arrowheads) constitute remnants of the pupillary membrane (B).

Absence of part or all the iris is called aniridia. This is a distinct ophthalmological feature observed in a restrict group of genetic diseases[1]. The triad of aniridia, congenital ataxia and intellectual disability characterize Gillespie syndrome, a recessive or dominant disease caused by ITPR1 gene mutations[2].



Publication History

Received: 17 January 2020

Accepted: 20 January 2020

Article published online:
13 June 2023

© 2020. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

Thieme Revinter Publicações Ltda.
Rua do Matoso 170, Rio de Janeiro, RJ, CEP 20270-135, Brazil

 

  • References

  • 1 Hall HN, Williamson KA, FitzPatrick DR. The genetic architecture of aniridia and Gillespie syndrome. Hum Genet. 2019 Sep;138(8-9):881-98. https://doi.org/10.1007/s00439-018-1934-8
  • 2 Gerber S, Alzayady KJ, Burglen L, Brémond-Gignac D, Marchesin V, Roche O, et al. Recessive and dominant de novo ITPR1 mutations cause Gillespie syndrome. Am J Hum Genet. 2016 May 5;98(5):971-80. https://doi.org/10.1016/j.ajhg.2016.03.004