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Rare disease
CASE REPORT
Unilateral retinitis pigmentosa occurring in an individual with a mutation in the CLRN1 gene
  1. Peng Yong Sim1,2,
  2. V Swetha E Jeganathan3,
  3. Alan F. Wright4,
  4. Peter Cackett5
  1. 1The University of Edinburgh, Edinburgh, UK
  2. 2Royal Free Hospital, London, UK
  3. 3The University of Michigan, Ann Arbor, Michigan, USA
  4. 4MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK
  5. 5Princess Alexandra Eye Pavilion, Edinburgh, UK
  1. Correspondence to Dr Peng Yong Sim, pengyong91{at}gmail.com

Summary

This case report depicts the clinical course of a female patient with unilateral retinitis pigmentosa, who first presented at the age of 12 years. Fundus photography at the time revealed unilateral pigmentary retinopathy, which was associated with extinguished electroretinogram (ERG) signal. At 35 years of age, fundus examination revealed deterioration of pre-existing unilateral pigmentary retinopathy with progressive visual field defect detected on Goldmann visual field testing. ERG findings remained unchanged and multifocal ERG showed unilateral decrease in amplitude in the affected eye. The patient was referred for genetic counselling. Next-generation sequencing identified a deleterious heterozygous c.118T>G (p.Cys40Gly) mutation in the CLRN1 gene.

  • genetic screening / counselling
  • ophthalmology

https://doi.org/10.1136/bcr-2017-222045

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    Footnotes

    • Contributors PC treated the patient as a clinician. VSJ and PC were responsible for data acquisition, analysis and interpretation. AFW assisted with genetic testing and analysis. PYS and VSJ wrote the first draft of manuscript. VSJ, AFW and PC were involved in revising and critically appraising manuscript. PYS, VSJ, AFW and PC were involved in final approval for publication.

    • Funding This research received no specific grant from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent Obtained.

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

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