KCNV2-associated retinopathy: genotype–phenotype correlations –KCNV2study group report 3
British Journal of Ophthalmology, vol. 108, pp. 1137–1144
Abstract
BACKGROUND/AIMS: retinopathy. METHODS: variants-two loss-of-function (TLOF), two missense (TM) or one of each (MLOF)-and parameters were compared. RESULTS: Ninety-two patients were included. The mean age of onset (mean±SD) in TLOF (n=55), TM (n=23) and MLOF (n=14) groups was 3.51±0.58, 4.07±2.76 and 5.54±3.38 years, respectively. The mean LogMAR BCVA (±SD) at baseline in TLOF, TM and MLOF groups was 0.89±0.25, 0.67±0.38 and 0.81±0.35 for right, and 0.88±0.26, 0.69±0.33 and 0.78±0.33 for left eyes, respectively. The difference in BCVA between groups at baseline was significant in right (p=0.03) and left eyes (p=0.035). Mean outer nuclear layer thickness (±SD) at baseline in TLOF, MLOF and TM groups was 37.07±15.20 µm, 40.67±12.53 and 40.38±18.67, respectively, which was not significantly different (p=0.85). The mean ellipsoid zone width (EZW) loss (±SD) was 2051 µm (±1318) for patients in the TLOF, and 1314 µm (±965) for MLOF. Only one patient in the TM group had EZW loss at presentation. There was considerable overlap in ERG findings, although the largest DA 10 ERG b-waves were associated with TLOF and the smallest with TM variants. CONCLUSIONS: Patients with missense alterations had better BCVA and greater structural integrity. This is important for patient prognostication and counselling, as well as stratification for future gene therapy trials.
Authors 36
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Moorfields Eye Hospital NHS Foundation Trust · University College London
Affiliation as printed
Institute of Ophthalmology, University College London, London, UK
Moorfields Eye Hospital NHS Foundation Trust, London, UK
Institute of Ophthalmology
Moorfields Eye Hospital NHS Foundation Trust
University College London
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Moorfields Eye Hospital NHS Foundation Trust · University College London
Affiliation as printed
Institute of Ophthalmology, University College London, London, UK
Moorfields Eye Hospital NHS Foundation Trust, London, UK
Institute of Ophthalmology
Moorfields Eye Hospital NHS Foundation Trust
University College London
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Moorfields Eye Hospital NHS Foundation Trust · University College London
Affiliation as printed
Institute of Ophthalmology, University College London, London, UK
Moorfields Eye Hospital NHS Foundation Trust, London, UK
Institute of Ophthalmology
Moorfields Eye Hospital NHS Foundation Trust
University College London
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Moorfields Eye Hospital NHS Foundation Trust · Keio University · University College London
Affiliation as printed
Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
Institute of Ophthalmology, University College London, London, UK
Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, Tokyo, Japan
Moorfields Eye Hospital NHS Foundation Trust, London, UK
Department of Ophthalmology
Institute of Ophthalmology
Keio University School of Medicine
Laboratory of Visual Physiology, Division of Vision Research
Moorfields Eye Hospital NHS Foundation Trust
National Institute of Sensory Organs
University College London
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Great Ormond Street Hospital · Hospital for Sick Children
Affiliation as printed
Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada
Department of Ophthalmology and Vision Sciences
The Hospital for Sick Children
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Universitätsklinikum Tübingen · University of Tübingen
Affiliation as printed
Centre for Ophthalmology, University Hospital Tubingen Institute for Ophthalmic Research, Tubingen, Germany
Centre for Ophthalmology
University Hospital Tubingen Institute for Ophthalmic Research
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Affiliation as printed
Department of Ophthalmology, Hadassah Medical Center, Jerusalem, Israel
Department of Ophthalmology
Hadassah Medical Center
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Moorfields Eye Hospital NHS Foundation Trust · University College London
Affiliation as printed
Institute of Ophthalmology, University College London, London, UK
Moorfields Eye Hospital NHS Foundation Trust, London, UK
Institute of Ophthalmology
Moorfields Eye Hospital NHS Foundation Trust
University College London
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Moorfields Eye Hospital NHS Foundation Trust · University College London
Affiliation as printed
Institute of Ophthalmology, University College London, London, UK
Moorfields Eye Hospital NHS Foundation Trust, London, UK
Institute of Ophthalmology
Moorfields Eye Hospital NHS Foundation Trust
University College London
-
Affiliation as printed
Genetic Eye Therapies, Ventura, California, USA
Genetic Eye Therapies
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Affiliation as printed
Department of Opthalmology, Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands
Department of Opthalmology
Erasmus Medical Center Rotterdam
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Amsterdam University Medical Centers · University College London
Affiliation as printed
Department of Ophthalmology, Amsterdam University Medical Centres, Amsterdam, The Netherlands
Institute of Ophthalmology, University College London, London, UK
Amsterdam University Medical Centres
Department of Ophthalmology
Institute of Ophthalmology
University College London
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Leiden University Medical Center
Affiliation as printed
Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands
Department of Ophthalmology
Leiden University Medical Center
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Moorfields Eye Hospital NHS Foundation Trust · University College London
Affiliation as printed
Institute of Ophthalmology, University College London, London, UK
Moorfields Eye Hospital NHS Foundation Trust, London, UK
Institute of Ophthalmology
Moorfields Eye Hospital NHS Foundation Trust
University College London
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Keio University · University College London
Affiliation as printed
Department of Health Policy and Management, Keio University School of Medicine, Tokyo, Japan
Institute of Ophthalmology, University College London, London, UK
Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, Tokyo, Japan
Department of Health Policy and Management
Institute of Ophthalmology
Keio University School of Medicine
Laboratory of Visual Physiology, Division of Vision Research
National Institute of Sensory Organs
University College London
-
Affiliation as printed
Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, Tokyo, Japan
Laboratory of Visual Physiology, Division of Vision Research
National Institute of Sensory Organs
-
Affiliation as printed
Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, Tokyo, Japan
Laboratory of Visual Physiology, Division of Vision Research
National Institute of Sensory Organs
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Jikei University School of Medicine
Affiliation as printed
Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan
Department of Ophthalmology
The Jikei University School of Medicine
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Instituto de Investigación Sanitaria Fundación Jiménez Díaz
Affiliation as printed
Instituto de Investigacion Sanitaria de la Fundacion Jimenez Diaz, Madrid, Spain
Instituto de Investigacion Sanitaria de la Fundacion Jimenez Diaz
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Centre for Biomedical Network Research on Rare Diseases · Instituto de Investigación Sanitaria Fundación Jiménez Díaz
Affiliation as printed
Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain
Instituto de Investigacion Sanitaria de la Fundacion Jimenez Diaz, Madrid, Spain
Center for Biomedical Network Research on Rare Diseases (CIBERER)
Instituto de Investigacion Sanitaria de la Fundacion Jimenez Diaz
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Centre for Biomedical Network Research on Rare Diseases · Instituto de Investigación Sanitaria Fundación Jiménez Díaz
Affiliation as printed
Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain
Instituto de Investigacion Sanitaria de la Fundacion Jimenez Diaz, Madrid, Spain
Center for Biomedical Network Research on Rare Diseases (CIBERER)
Instituto de Investigacion Sanitaria de la Fundacion Jimenez Diaz
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Instituto de Investigación Sanitaria Fundación Jiménez Díaz
Affiliation as printed
Instituto de Investigacion Sanitaria de la Fundacion Jimenez Diaz, Madrid, Spain
Instituto de Investigacion Sanitaria de la Fundacion Jimenez Diaz
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Instituto de Investigación Sanitaria Fundación Jiménez Díaz
Affiliation as printed
Instituto de Investigacion Sanitaria de la Fundacion Jimenez Diaz, Madrid, Spain
Instituto de Investigacion Sanitaria de la Fundacion Jimenez Diaz
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Centre for Biomedical Network Research on Rare Diseases · Instituto de Investigación Sanitaria Fundación Jiménez Díaz
Affiliation as printed
Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain
Instituto de Investigacion Sanitaria de la Fundacion Jimenez Diaz, Madrid, Spain
Center for Biomedical Network Research on Rare Diseases (CIBERER)
Instituto de Investigacion Sanitaria de la Fundacion Jimenez Diaz
-
Affiliation as printed
Department of Ophthalmology, Hadassah Medical Center, Jerusalem, Israel
Department of Ophthalmology
Hadassah Medical Center
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Universitätsklinikum Tübingen · University of Tübingen
Affiliation as printed
Centre for Ophthalmology, University Hospital Tubingen Institute for Ophthalmic Research, Tubingen, Germany
Centre for Ophthalmology
University Hospital Tubingen Institute for Ophthalmic Research
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Massachusetts Eye and Ear Infirmary · Harvard University
Affiliation as printed
Department of Ophthalmology, Massachusetts Eye and Ear, Harvard, Massachusetts, USA
Department of Ophthalmology
Massachusetts Eye and Ear
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Affiliation as printed
Department of Ophthalmology, Hadassah Medical Center, Jerusalem, Israel
Department of Ophthalmology
Hadassah Medical Center
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Oregon Health & Science University
Affiliation as printed
Department of Ophthalmology, Oregon Health & Science University - Casey Eye Institute, Portland, Oregon, USA
Department of Ophthalmology
Oregon Health & Science University - Casey Eye Institute
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Cleveland Clinic Lerner College of Medicine · Cleveland Clinic Abu Dhabi · Case Western Reserve University
Affiliation as printed
Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio, USA
Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, UAE
Cleveland Clinic Abu Dhabi
Cleveland Clinic Lerner College of Medicine of Case Western Reserve University
Department of Ophthalmology
Eye Institute
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Universitätsklinikum Tübingen · University of Tübingen
Affiliation as printed
Centre for Ophthalmology, University Hospital Tubingen Institute for Ophthalmic Research, Tubingen, Germany
Centre for Ophthalmology
University Hospital Tubingen Institute for Ophthalmic Research
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Moorfields Eye Hospital NHS Foundation Trust · University College London
Affiliation as printed
Institute of Ophthalmology, University College London, London, UK
Moorfields Eye Hospital NHS Foundation Trust, London, UK
Institute of Ophthalmology
Moorfields Eye Hospital NHS Foundation Trust
University College London
-
Great Ormond Street Hospital · Hospital for Sick Children
Affiliation as printed
Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada
Department of Ophthalmology and Vision Sciences
The Hospital for Sick Children
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Leiden University Medical Center · Amsterdam University Medical Centers
Affiliation as printed
Department of Ophthalmology, Amsterdam University Medical Centres, Amsterdam, The Netherlands
Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands
Amsterdam University Medical Centres
Department of Ophthalmology
Leiden University Medical Center
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Universitätsklinikum Tübingen · University of Tübingen
Affiliation as printed
Centre for Ophthalmology, University Hospital Tubingen Institute for Ophthalmic Research, Tubingen, Germany
Centre for Ophthalmology
University Hospital Tubingen Institute for Ophthalmic Research
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Michel Michaelides corresponding
Moorfields Eye Hospital NHS Foundation Trust · University College London
Affiliation as printed
Institute of Ophthalmology, University College London, London, UK michel.michaelides@ucl.ac.uk
Moorfields Eye Hospital NHS Foundation Trust, London, UK
Institute of Ophthalmology
Moorfields Eye Hospital NHS Foundation Trust
University College London
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