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Laboratory science
13q32.1 as a candidate region for physiological anisocoria
  1. Jenny M Bosten1,
  2. Adam J Lawrance-Owen2,
  3. Gary Bargary2,
  4. Patrick T Goodbourn3,
  5. John D Mollon2
  1. 1 School of Psychology, University of Sussex, Brighton, UK
  2. 2 Department of Psychology, University of Cambridge, Cambridge, UK
  3. 3 School of Psychology, University of Melbourne, Melbourne, Victoria, Australia
  1. Correspondence to Dr Jenny M Bosten, School of Psychology, University of Sussex, Brighton BN1 9RH, East Sussex, UK; j.bosten{at}sussex.ac.uk

Abstract

Background Physiological anisocoria is an asymmetry of pupil size in the absence of pathology.

Methods Images of the pupils under standard illumination were collected in the course of a whole-genome association study of a range of visual functions in 1060 healthy adults. DNA for each participant was extracted from saliva samples.

Results We found no relationship between anisocoria and the difference in refraction between the eyes, nor between anisocoria and difference in acuity. There was a small but significant relationship with lightness of the iris, in that the eye with the smaller pupil was associated with the lighter iris. There was a strong association between anisocoria and a local region of chromosome 13 (13q32.1), a region lying between the genes GPR180 and SOX21. The strongest association was with the single-nucleotide polymorphism rs9524583.

Conclusion The very specific region associated with anisocoria is one where microdeletions (or microduplications) are known to lead to abnormal development of pupil dilator muscle and hence to the autosomal dominant condition of microcoria. It is possible that alterations at 13q32.1 act by altering the expression of SOX21, which encodes a nuclear transcription factor.

  • pupil
  • genetics

Data availability statement

Data are available on reasonable request. Summary GWAS results and anonymised phenotype data underlying these results are available by request to the corresponding author. Raw genetic data for individual participants are not available under our ethical permissions.

https://doi.org/10.1136/bjophthalmol-2021-319936

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    Data availability statement

    Data are available on reasonable request. Summary GWAS results and anonymised phenotype data underlying these results are available by request to the corresponding author. Raw genetic data for individual participants are not available under our ethical permissions.

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    Footnotes

    • Contributors JDM secured research funding; JDM led the study; all authors designed the methods; JMB, AJL-O, GB and PTG gathered the data; AJL-O, PTG and JMB analysed the data; JMB and JDM wrote the manuscript; JMB, PTG and JDM edited the manuscript. JDM is the study's guarantor.

    • Funding Supported by the Gatsby Charitable Foundation (JM; GAT2903) and by a Research Fellowship from Gonville and Caius College (JB; no grant ID). JM is currently supported by BBSRC grant BB/S000623/1 and JB by ERC grant 949242—COLOURCODE.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.