title: Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia.
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.
authors.affiliation: Maladies Sensorielles Génétiques, CHRU, Montpellier, France.
authors.forename: Thomas
authors.initials: T
authors.lastname: Chassine
authors.affiliation: INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier, France Université Montpellier 1, Montpellier, France Université Montpellier 2, Montpellier, France.
authors.forename: Béatrice
authors.initials: B
authors.lastname: Bocquet
authors.affiliation: Université Montpellier 1, Montpellier, France INSERM U1061, Montpellier, France Department of Ophthalmology, CHRU, Montpellier, France.
authors.forename: Vincent
authors.initials: V
authors.lastname: Daien
authors.affiliation: Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jimenez Diaz, University Hospital, Madrid, Spain Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
authors.forename: Almudena
authors.initials: A
authors.lastname: Avila-Fernandez
authors.affiliation: Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jimenez Diaz, University Hospital, Madrid, Spain Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
authors.forename: Carmen
authors.initials: C
authors.lastname: Ayuso
authors.affiliation: Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Rob Wj
authors.initials: RW
authors.lastname: Collin
authors.affiliation: Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jimenez Diaz, University Hospital, Madrid, Spain Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
authors.forename: Marta
authors.initials: M
authors.lastname: Corton
authors.affiliation: Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: J Fielding
authors.initials: JF
authors.lastname: Hejtmancik
authors.affiliation: The Rotterdam Eye Hospital, Rotterdam, The Netherlands.
authors.forename: L Ingeborgh
authors.initials: LI
authors.lastname: van den Born
authors.affiliation: Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: B Jeroen
authors.initials: BJ
authors.lastname: Klevering
authors.affiliation: National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors.forename: S Amer
authors.initials: SA
authors.lastname: Riazuddin
authors.affiliation: Maladies Sensorielles Génétiques, CHRU, Montpellier, France.
authors.forename: Nathacha
authors.initials: N
authors.lastname: Sendon
authors.affiliation: INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier, France Université Montpellier 1, Montpellier, France Université Montpellier 2, Montpellier, France.
authors.forename: Annie
authors.initials: A
authors.lastname: Lacroux
authors.affiliation: Maladies Sensorielles Génétiques, CHRU, Montpellier, France INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier, France Université Montpellier 1, Montpellier, France Université Montpellier 2, Montpellier, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Meunier
authors.affiliation: Maladies Sensorielles Génétiques, CHRU, Montpellier, France INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier, France Université Montpellier 1, Montpellier, France Université Montpellier 2, Montpellier, France.
authors.forename: Christian P
authors.initials: CP
authors.lastname: Hamel
mesh_terms: D000328:Adult; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D008869:Microtubule-Associated Proteins; D008875:Middle Aged; D009154:Mutation; D009216:Myopia / Q000209:etiology* / Q000235:genetics / Q000503:physiopathology; D010375:Pedigree; D010641:Phenotype; D012174:Retinitis Pigmentosa / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D014792:Visual Acuity; D014794:Visual Fields; D055815:Young Adult
chemical_list: D005136:Eye Proteins; D008869:Microtubule-Associated Proteins; C120042:RP1 protein, human; D004247:DNA
keywords: Genetics; Retina; Vision