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DOI: 10.1590/0004-282X20200013
Aniridia as a clue for the diagnosis of Gillespie syndrome
Aniridia: dica clínica para o diagnóstico da síndrome de Gillespie![](https://www.thieme-connect.de/media/10.1055-s-00054595/202006/lookinside/thumbnails/10-1590-0004-282x20200013_20200013-1.jpg)
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.
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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/)
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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