Aniridia as a clue for the diagnosis of Gillespie syndrome

Aniridia: dica clínica para o diagnóstico da síndrome de Gillespie

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.

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 diseases¹. The triad of aniridia, congenital ataxia and intellectual disability characterize Gillespie syndrome, a recessive or dominant disease caused by ITPR1 gene mutations².

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
  » https://doi.org/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
  » https://doi.org/https://doi.org/10.1016/j.ajhg.2016.03.004

Publication Dates

• Publication in this collection
  26 June 2020
• Date of issue
  June 2020

History

• Reviewed
  27 Dec 2019
• Received
  17 Jan 2020
• Accepted
  20 Jan 2020