Usher Syndrome and Color Vision

Autor: Ieva Sliesoraityte, Susanne Kohl, Stephanie Hipp, Francesca Simonelli, Ditta Zobor, Saddek Mohand-Said, José-Alain Sahel, Isabelle Audo, Anne Kurtenbach, Christoph Kernstock, Marko Hawlina, Crystel Bonnet, Francesco Testa, Ana Fakin, Katarina Stingl, Christine Petit, Eberhart Zrenner, Gesa Hahn
Přispěvatelé: Institute for Ophthalmic Research [Tübingen, Germany] (Centre for Ophthalmology), University of Tübingen, Center for Ophthalmology, Institute for Ophthalmic research Tuebingen, Institut de la Vision, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Ecole Doctorale Complexité du Vivant (ED515), Sorbonne Université (SU), Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), Institut Arthur Vernes, University Medical Centre Ljubljana [Ljubljana, Slovenia] (UMCL), Università degli studi della Campania 'Luigi Vanvitelli', Génétique et Physiologie de l'Audition, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), Università degli studi della Campania 'Luigi Vanvitelli' = University of the Study of Campania Luigi Vanvitelli, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Collège de France - Chaire Génétique et physiologie cellulaire, Kurtenbach, Anne, Hahn, Gesa, Kernstock, Christoph, Hipp, Stephanie, Zobor, Ditta, Stingl, Katarina, Kohl, Susanne, Bonnet, Crystel, Mohand-Saïd, Saddek, Sliesoraityte, Ieva, Sahel, José-Alain, Audo, Isabelle, Fakin, Ana, Hawlina, Marko, Testa, Francesco, Simonelli, Francesca, Petit, Christine, Zrenner, Eberhart
Rok vydání: 2018
Předmět:
0301 basic medicine
Male
Visual acuity
genetic structures
Usher syndrome
[SDV]Life Sciences [q-bio]
MESH: Color Perception Tests
Visual Acuity
Color Vision Defects
030105 genetics & heredity
MESH: Visual Acuity
0302 clinical medicine
Confusion
MESH: Genetic Association Studies
MESH: Aged
MESH: Middle Aged
Color Perception Tests
medicine.diagnostic_test
Middle Aged
Sensory Systems
MESH: Young Adult
Female
medicine.symptom
Usher Syndromes
Adult
medicine.medical_specialty
Adolescent
Color vision
03 medical and health sciences
Cellular and Molecular Neuroscience
Young Adult
Ophthalmology
medicine
otorhinolaryngologic diseases
Humans
Color perception test
retinal dystrophy
MESH: Usher Syndromes
Genetic Association Studies
Hue
Aged
MESH: Adolescent
MESH: Color Vision Defects
MESH: Humans
business.industry
MESH: Adult
medicine.disease
eye diseases
MESH: Male
color vision
Color loss
030221 ophthalmology & optometry
business
MESH: Female
Zdroj: Current Eye Research
Current Eye Research, Taylor & Francis, 2018, 43 (10), pp.1295-1301. ⟨10.1080/02713683.2018.1501804⟩
Current Eye Research, 2018, 43 (10), pp.1295-1301. ⟨10.1080/02713683.2018.1501804⟩
ISSN: 1460-2202
0271-3683
DOI: 10.1080/02713683.2018.1501804⟩
Popis: Purpose: The aim of this study is to report on the results of color vision testing in a European cohort of patients with Usher syndrome (USH). We describe the results in relation to Usher type (USH1 and USH2), age and visual acuity. Methods and methods: The color vision of 220 genetically confirmed adult USH patients, aged 18–70 years, was analyzed with one of three methods: the Farnsworth D-15 Dichotomous test (D-15) along with the Lanthony desaturated 15 Hue tests (D-15d), the Roth 28-Hue test, or the Ishihara 14-plate test. Visual acuity was measured with either the ETDRS or the SNELLEN charts. The Confusion index, the Selectivity index and the Confusion angle were calculated for the panel tests and used for analysis. The numbers of plates that could not be read were analyzed for the Ishihara test. Results: For the panel tests, the degree of color loss (Confusion index) is similar in both subtypes of USH, but the polarization of error scores (Selectivity index) is significantly lower in USH1 than USH2, showing more diffuse errors than those found in USH2. There is no significant correlation between logMAR visual acuity and the Confusion or the Selectivity indices. Additionally, we find a significant correlation between patient age and the degree and the polarity of the loss only in USH2. There was no difference between USH1 and USH2 in the results of the Ishihara test. Conclusions: The examination of color vision in patients with USH shows a significant difference in the pattern of color vision loss in USH1 and USH2 patients, but not in the severity of the loss. In USH2, we find a correlation between patient age and the degree and the polarity of the loss. These results may be due to differences in the pathogenesis of retinal dystrophy in USH1 and USH2. Purpose: The aim of this study is to report on the results of color vision testing in a European cohort of patients with Usher syndrome (USH). We describe the results in relation to Usher type (USH1 and USH2), age and visual acuity.Methods and methods: The color vision of 220 genetically confirmed adult USH patients, aged 18-70years, was analyzed with one of three methods: the Farnsworth D-15 Dichotomous test (D-15) along with the Lanthony desaturated 15 Hue tests (D-15d), the Roth 28-Hue test, or the Ishihara 14-plate test. Visual acuity was measured with either the ETDRS or the SNELLEN charts. The Confusion index, the Selectivity index and the Confusion angle were calculated for the panel tests and used for analysis. The numbers of plates that could not be read were analyzed for the Ishihara test.Results: For the panel tests, the degree of color loss (Confusion index) is similar in both subtypes of USH, but the polarization of error scores (Selectivity index) is significantly lower in USH1 than USH2, showing more diffuse errors than those found in USH2. There is no significant correlation between logMAR visual acuity and the Confusion or the Selectivity indices. Additionally, we find a significant correlation between patient age and the degree and the polarity of the loss only in USH2. There was no difference between USH1 and USH2 in the results of the Ishihara test.Conclusions: The examination of color vision in patients with USH shows a significant difference in the pattern of color vision loss in USH1 and USH2 patients, but not in the severity of the loss. In USH2, we find a correlation between patient age and the degree and the polarity of the loss. These results may be due to differences in the pathogenesis of retinal dystrophy in USH1 and USH2.
Databáze: OpenAIRE
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