Katarina Stingl1, Anne Kurtenbach2, Gesa Hahn3, Christoph Kernstock3, Stephanie Hipp2, Ditta Zobor2, Susanne Kohl2, Crystel Bonnet4, Saddek Mohand-Saïd5,6, Isabelle Audo5,6, Ana Fakin7, Marko Hawlina7, Francesco Testa8, Francesca Simonelli8, Christine Petit4,9,10, Jose-Alain Sahel5,6,11,12,13, Eberhart Zrenner2,14,14. 1. University Eye Hospital, Center for Ophthalmology, Elfriede-Aulhorn-Str. 7, 72076, Tuebingen, Germany. katarina.stingl@med.uni-tuebingen.de. 2. Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Elfriede-Aulhorn-Str. 7, 72076, Tuebingen, Germany. 3. University Eye Hospital, Center for Ophthalmology, Elfriede-Aulhorn-Str. 7, 72076, Tuebingen, Germany. 4. UMRS 1120, INSERM, Institut de la Vision, Sorbonne Université, 17 rue Moreau, 75012, Paris, France. 5. INSERM, CNRS, Institut de la Vision, Sorbonne Université, 17 rue Moreau, 75012, Paris, France. 6. DHU Sight Restore, INSERM-DHOS CIC1423, CHNO des Quinze-Vingts, 28 rue de Charenton, 75012, Paris, France. 7. Eye Hospital, University Medical Centre Ljubljana, Zaloška cesta 7, 1000, Ljubljana, Slovenia. 8. Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Viale Abramo Lincoln, 5, 81100, Caserta, CE, Italy. 9. Laboratory of Genetics and Physiology of Hearing, Institut Pasteur, 75015, Paris, France. 10. Collège de France, 11 place Marcelin-Berthelot, 75005, Paris, France. 11. Fondation Ophtalmologique Adolphe de Rothschild, 29 Rue Manin, 75019, Paris, France. 12. Académie des Sciences-Institut de France, 23 quai de Conti, 75006, Paris, France. 13. Department of Ophthalmology, University of Pittsburgh School of Medicine, 203 Lothrop Street, Pittsburgh, PA, 15213, USA. 14. Werner Reichardt Centre for Integrative Neuroscience (CIN), University of Tuebingen, Elfriede-Aulhorn-Str. 7, 72076, Tuebingen, Germany.
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.
Entities:
Keywords:
ERG; Functional diagnostics; Usher syndrome; Visual acuity; Visual field
Authors: Laurence H M Pierrache; Bas P Hartel; Erwin van Wijk; Magda A Meester-Smoor; Frans P M Cremers; Elfride de Baere; Julie de Zaeytijd; Mary J van Schooneveld; Cor W R J Cremers; Gislin Dagnelie; Carel B Hoyng; Arthur A Bergen; Bart P Leroy; Ronald J E Pennings; L Ingeborgh van den Born; Caroline C W Klaver Journal: Ophthalmology Date: 2016-02-27 Impact factor: 12.079
Authors: Sophia Grotz; Jessica Schäfer; Uwe Wolfrum; Nikolai Klymiuk; Kirsten A Wunderlich; Zdenka Ellederova; Hannah Auch; Andrea Bähr; Petra Runa-Vochozkova; Janet Fadl; Vanessa Arnold; Taras Ardan; Miroslav Veith; Gianluca Santamaria; Georg Dhom; Wolfgang Hitzl; Barbara Kessler; Christian Eckardt; Joshua Klein; Anna Brymova; Joshua Linnert; Mayuko Kurome; Valeri Zakharchenko; Andrea Fischer; Andreas Blutke; Anna Döring; Stepanka Suchankova; Jiri Popelar; Eduardo Rodríguez-Bocanegra; Julia Dlugaiczyk; Hans Straka; Helen May-Simera; Weiwei Wang; Karl-Ludwig Laugwitz; Luk H Vandenberghe; Eckhard Wolf; Kerstin Nagel-Wolfrum; Tobias Peters; Jan Motlik; M Dominik Fischer Journal: EMBO Mol Med Date: 2022-03-07 Impact factor: 12.137
Authors: David G Birch; Peiyao Cheng; Jacque L Duncan; Allison R Ayala; Maureen G Maguire; Isabelle Audo; Janet K Cheetham; Todd A Durham; Abigail T Fahim; Frederick L Ferris; Elise Heon; Rachel M Huckfeldt; Alessandro Iannaccone; Naheed W Khan; Eleonora M Lad; Michel Michaelides; Mark E Pennesi; Katarina Stingl; Ajoy Vincent; Christina Y Weng Journal: Transl Vis Sci Technol Date: 2020-10-08 Impact factor: 3.048