1. Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study
- Author
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Christoph Kernstock, Ditta Zobor, Anne Kurtenbach, Francesca Simonelli, Susanne Kohl, Stephanie Hipp, José-Alain Sahel, Marko Hawlina, Isabelle Audo, Saddek Mohand-Said, Crystel Bonnet, Christine Petit, Eberhart Zrenner, Katarina Stingl, Gesa Hahn, Francesco Testa, Ana Fakin, Institute for Ophthalmic Research [Tübingen, Germany] (Centre for Ophthalmology), University of Tübingen, University of Tuebingen, Génétique et Physiologie de l'Audition, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), Institut de la Vision, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), University Medical Centre Ljubljana [Ljubljana, Slovenia] (UMCL), University of the Study of Campania Luigi Vanvitelli, Collège de France - Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), Fondation Ophtalmologique Adolphe de Rothschild [Paris], University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE), Tuebingen University [Germany], This work was supported by the European Union Seventh Framework Programme under the Grant Agreement HEALTH-F2-2010-242013 (TREATRUSH) and the Tistou and Charlotte Kerstan Foundation., European Project: 242013,EC:FP7:HEALTH,FP7-HEALTH-2009-single-stage,TREATRUSH(2010), Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Chaire Génétique et physiologie cellulaire, Stingl, Katarina, Kurtenbach, Anne, Hahn, Gesa, Kernstock, Christoph, Hipp, Stephanie, Zobor, Ditta, Kohl, Susanne, Bonnet, Crystel, Mohand-Said, Saddek, Audo, Isabelle, Fakin, Ana, Hawlina, Marko, Testa, Francesco, Simonelli, Francesca, Petit, Christine, Sahel, Jose-Alain, and Zrenner, Eberhart
- Subjects
Male ,Visual acuity ,genetic structures ,Usher syndrome ,[SDV]Life Sciences [q-bio] ,Visual Acuity ,MESH: Electroretinography ,MESH: Visual Acuity ,0302 clinical medicine ,Functional diagnostics ,MESH: Middle Aged ,medicine.diagnostic_test ,MESH: Visual Field Tests ,MESH: Retina ,MESH: European Continental Ancestry Group ,Middle Aged ,Visual field ,Sensory Systems ,Phenotype ,MESH: Young Adult ,ERG ,Female ,medicine.symptom ,Erg ,Usher Syndromes ,Retinitis Pigmentosa ,Photopic vision ,Adult ,medicine.medical_specialty ,Context (language use) ,MESH: Phenotype ,Retina ,White People ,03 medical and health sciences ,Young Adult ,Physiology (medical) ,Ophthalmology ,Retinitis pigmentosa ,medicine ,otorhinolaryngologic diseases ,Electroretinography ,Humans ,MESH: Usher Syndromes ,MESH: Humans ,business.industry ,MESH: Adult ,Functional diagnostic ,medicine.disease ,eye diseases ,MESH: Male ,030221 ophthalmology & optometry ,MESH: Retinitis Pigmentosa ,Visual Field Tests ,MESH: Visual Fields ,Visual Fields ,business ,MESH: Female ,030217 neurology & neurosurgery - Abstract
Purpose: Usher syndrome (USH) is a multisensory deficiency involving vision, hearing and the vestibular system. The purpose of this study is to report on the functional data (i.e. electroretinography, visual fields, visual acuity) of patients with retinitis pigmentosa (RP) due to Usher syndrome that were collected in a multicentre European study (TREATRUSH). Methods: A total of 268 genetically confirmed USH patients underwent electrophysiological examinations in the context of multimodal ophthalmological examination in the study (75 USH1, 189 USH2 and four USH3). Full-field electroretinography (ERG) was performed according to ISCEV standards, visual field determination was carried out with either the Octopus or Goldmann perimeters and visual acuity was examined with either ETDRS or Snellen charts. The data were compared between USH subtypes (USH1/USH2/USH3) and correlated with age. Results: Visual acuity decreases significantly with age for both USH1 and USH2 (p < 0.001), without a difference between the two cohorts. When corrected for age, the preserved kinetic visual field was significantly larger in USH2 than in USH1 (p = 0.04). Furthermore, the preserved kinetic visual field area showed a significant decrease with age (based on an exponential fit) in both USH1 and USH2 (p < 0.001). In USH1 patients, however, the visual field was already vastly reduced at an early age. The ERG results were abnormal in all patients. Detectable data for scotopic ERG were obtained from nine patients, and data of photopic ERG were obtained from 24 patients, without a difference between USH1 and USH2 subtypes. Conclusions: There are differences in the phenotypes of RP in USH subtypes, most visible in the progression of visual fields between USH1 and USH2. The perimetric reduction occurs earlier in USH1 than in USH2. In both subtypes, visual acuity decreases significantly with age and the ERG is not detectable already at early ages. Purpose: Usher syndrome (USH) is a multisensory deficiency involving vision, hearing and the vestibular system. The purpose of this study is to report on the functional data (i.e. electroretinography, visual fields, visual acuity) of patients with retinitis pigmentosa (RP) due to Usher syndrome that were collected in a multicentre European study (TREATRUSH). Methods: A total of 268 genetically confirmed USH patients underwent electrophysiological examinations in the context of multimodal ophthalmological examination in the study (75 USH1, 189 USH2 and four USH3). Full-field electroretinography (ERG) was performed according to ISCEV standards, visual field determination was carried out with either the Octopus or Goldmann perimeters and visual acuity was examined with either ETDRS or Snellen charts. The data were compared between USH subtypes (USH1/USH2/USH3) and correlated with age. Results: Visual acuity decreases significantly with age for both USH1 and USH2 (p < 0.001), without a difference between the two cohorts. When corrected for age, the preserved kinetic visual field was significantly larger in USH2 than in USH1 (p = 0.04). Furthermore, the preserved kinetic visual field area showed a significant decrease with age (based on an exponential fit) in both USH1 and USH2 (p < 0.001). In USH1 patients, however, the visual field was already vastly reduced at an early age. The ERG results were abnormal in all patients. Detectable data for scotopic ERG were obtained from nine patients, and data of photopic ERG were obtained from 24 patients, without a difference between USH1 and USH2 subtypes. Conclusions: There are differences in the phenotypes of RP in USH subtypes, most visible in the progression of visual fields between USH1 and USH2. The perimetric reduction occurs earlier in USH1 than in USH2. In both subtypes, visual acuity decreases significantly with age and the ERG is not detectable already at early ages.
- Published
- 2019