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Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia
  1. Thomas Chassine1,
  2. Béatrice Bocquet2,3,4,
  3. Vincent Daien3,5,6,
  4. Almudena Avila-Fernandez7,8,
  5. Carmen Ayuso7,8,
  6. Rob WJ Collin9,10,
  7. Marta Corton7,8,
  8. J Fielding Hejtmancik11,
  9. L Ingeborgh van den Born12,
  10. B Jeroen Klevering13,
  11. S Amer Riazuddin14,15,
  12. Nathacha Sendon1,
  13. Annie Lacroux2,3,4,
  14. Isabelle Meunier1,2,3,4,
  15. Christian P Hamel1,2,3,4
  1. 1Maladies Sensorielles Génétiques, CHRU, Montpellier, France
  2. 2INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier, France
  3. 3Université Montpellier 1, Montpellier, France
  4. 4Université Montpellier 2, Montpellier, France
  5. 5INSERM U1061, Montpellier, France
  6. 6Department of Ophthalmology, CHRU, Montpellier, France
  7. 7Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jimenez Diaz, University Hospital, Madrid, Spain
  8. 8Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain
  9. 9Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
  10. 10Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands
  11. 11Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA
  12. 12The Rotterdam Eye Hospital, Rotterdam, The Netherlands
  13. 13Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands
  14. 14National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan
  15. 15The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
  1. Correspondence to Professor Christian P Hamel, INSERM U1051, Institut des Neurosciences de Montpellier, Hôpital Saint-Eloi, BP 74103, 80, rue Augustin Fliche, 34091 Montpellier Cedex 5, France; christian.hamel{at}inserm.fr

Abstract

Objective To determine the refractive error in patients with autosomal recessive retinitis pigmentosa (arRP) caused by RP1 mutations and to compare it with that of other genetic subtypes of RP.

Methods Twenty-six individuals had arRP with RP1 mutations, 25 had autosomal dominant RP (adRP) with RP1 mutation, 8 and 33 had X-linked RP (xlRP) with RP2 and RPGR mutations, respectively, 198 and 93 had Usher syndrome and arRP without RP1 mutations, respectively. The median of the spherical equivalent (SE) and the IQR (Q25–Q75) was determined and multiple comparisons were performed.

Results arRP patients with RP1 mutations had SE median at −4.0 dioptres (D) OD (Ocula Dextra); −3.88 D OS (Ocula Sinistra), whereas arRP patients without RP1 mutations (−0.50 D OD; −0.75 D OS) and Usher syndrome patients (−0.50 D OD; −0.38 D OS) were significantly less myopic (p<0.0001). Conversely, myopia of xlRP patients with either an RPGR mutation (−4.50 D OD; −5.25 D OS) or an RP2 mutation (−6.25 D OD; −6.88 D OS) was not significantly different from the arRP group with RP1 mutations. arRP without RP1 mutations, Usher syndrome and adRP with RP1 mutation had a narrow IQR (−9.06 to −1.13 D), whereas arRP with RP1 mutations and xlRP with RP2 or RPGR mutations had a larger range (−9.06; −1.13 D).

Conclusions arRP patients with RP1 mutations have myopia not different from patients with xlRP with RP2 or RPGR mutations, while RP patients from other genetic subgroups were emmetropic or mildly myopic. We suggest that arRP patients with high myopic refractive error should be preferentially analysed for RP1 mutations.

  • Retina
  • Vision
  • Genetics

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