About the Authors

Lin Li

Contributed equally to this work with: Lin Li, Xiaodong Jiao, Ilaria D’Atri

Roles Investigation, Methodology, Writing – original draft

Affiliations Department of Ophthalmology, Shanghai Ninth People’s Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, P.R. China, Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Xiaodong Jiao

Contributed equally to this work with: Lin Li, Xiaodong Jiao, Ilaria D’Atri

Roles Data curation, Investigation, Writing – review & editing

Affiliation Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Ilaria D’Atri

Contributed equally to this work with: Lin Li, Xiaodong Jiao, Ilaria D’Atri

Roles Data curation, Formal analysis, Investigation, Writing – review & editing

Affiliation RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom

Fumihito Ono

Roles Data curation, Investigation, Writing – review & editing

Affiliations Section on Model Synaptic Systems, Laboratory of Molecular Physiology, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Bethesda, Maryland, United States of America, Department of Physiology, Osaka Medical College, Takatsuki, Japan

Ralph Nelson

Roles Formal analysis, Investigation, Writing – review & editing

Affiliation Unit on Neural Circuits, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, United States of America

Chi-Chao Chan

Roles Investigation, Writing – review & editing

Affiliation Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Naoki Nakaya

Roles Formal analysis, Investigation, Writing – review & editing

Affiliation Section of Molecular Mechanisms of Glaucoma, Laboratory of Molecular and Developmental Biology, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Zhiwei Ma

Roles Data curation, Investigation, Writing – review & editing

Affiliation Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Yan Ma

Roles Formal analysis, Investigation, Writing – review & editing

Affiliation Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Xiaoying Cai

Roles Data curation, Investigation

Affiliation School of Life Sciences, University of Science and Technology of China, Hefei, Anhui, P.R. China

Longhua Zhang

Roles Formal analysis, Investigation

Affiliation School of Life Sciences, University of Science and Technology of China, Hefei, Anhui, P.R. China

Siying Lin

Roles Formal analysis, Writing – review & editing

Affiliation RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom

Abdul Hameed

Roles Investigation, Project administration, Writing – review & editing

Affiliations RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom, Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan

Barry A. Chioza

Roles Data curation, Formal analysis, Investigation, Writing – review & editing

Affiliation RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom

Holly Hardy

Roles Data curation, Investigation

Affiliation RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom

Gavin Arno

Roles Project administration, Writing – review & editing

Affiliations Institute of Ophthalmology, University College London, London, United Kingdom, Department of Biosciences, Moorfields Eye Hospital, London, United Kingdom

Sarah Hull

Roles Investigation

Affiliations Institute of Ophthalmology, University College London, London, United Kingdom, Department of Biosciences, Moorfields Eye Hospital, London, United Kingdom

Muhammad Imran Khan

Roles Investigation, Project administration

Affiliation Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan

James Fasham

Roles Formal analysis, Writing – review & editing

Affiliations RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom, Department of Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom

Gaurav V. Harlalka

Roles Data curation, Investigation, Writing – review & editing

Affiliation RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom

Michel Michaelides

Roles Investigation

Affiliations Institute of Ophthalmology, University College London, London, United Kingdom, Department of Biosciences, Moorfields Eye Hospital, London, United Kingdom

Anthony T. Moore

Roles Project administration

Affiliations Institute of Ophthalmology, University College London, London, United Kingdom, Department of Biosciences, Moorfields Eye Hospital, London, United Kingdom, Ophthalmology Department, UCSF School of Medicine, San Francisco, California, United States of America

Zeynep Hande Coban Akdemir

Roles Formal analysis, Investigation

Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

Shalini Jhangiani

Roles Formal analysis, Investigation

Affiliation Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States of America

James R. Lupski

Roles Data curation, Project administration

Affiliations Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America, Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States of America, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America, Texas Children’s Hospital, Houston, Texas, United States of America

Frans P. M. Cremers

Roles Investigation, Writing – review & editing

Affiliation Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands

Raheel Qamar

Roles Investigation

Affiliation Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan

Ahmed Salman

Roles Data curation, Investigation

Affiliation Faculty of Medicine, University of Southampton, Southampton, United Kingdom

John Chilton

Roles Project administration, Writing – review & editing

Affiliation RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom

Jay Self

Roles Project administration

Affiliation Faculty of Medicine, University of Southampton, Southampton, United Kingdom

Radha Ayyagari

Roles Investigation

Affiliation Shiley Eye Institute, University of California San Diego, La Jolla, California, United States of America

Firoz Kabir

Roles Investigation

Affiliations 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, United States of America

Muhammad Asif Naeem

Roles Investigation

Affiliation National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan

Muhammad Ali

Roles Investigation

Affiliations 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, United States of America

Javed Akram

Roles Investigation

Affiliations Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan, National Centre for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan

Paul A. Sieving

Roles Conceptualization, Writing – review & editing

Affiliation National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Sheikh Riazuddin

Roles Conceptualization, Supervision, Writing – review & editing

Affiliations National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan, Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan, National Centre for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan

Emma L. Baple

Roles Conceptualization, Formal analysis, Writing – original draft

e.baple@exeter.ac.uk (ELB); riazuddin@jhmi.edu (SAR); a.h.crosby@exeter.ac.uk (AHC); f3h@helix.nih.gov (JFH)

‡ SAR, AHC, JFH also contributed equally to this work.

Affiliations RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom, Department of Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom

S. Amer Riazuddin

Roles Conceptualization, Formal analysis, Investigation, Writing – review & editing

e.baple@exeter.ac.uk (ELB); riazuddin@jhmi.edu (SAR); a.h.crosby@exeter.ac.uk (AHC); f3h@helix.nih.gov (JFH)

‡ SAR, AHC, JFH also contributed equally to this work.

Affiliations 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, United States of America

Andrew H. Crosby

Roles Conceptualization, Formal analysis, Writing – original draft

e.baple@exeter.ac.uk (ELB); riazuddin@jhmi.edu (SAR); a.h.crosby@exeter.ac.uk (AHC); f3h@helix.nih.gov (JFH)

‡ SAR, AHC, JFH also contributed equally to this work.

Affiliation RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom

J. Fielding Hejtmancik

Roles Conceptualization, Formal analysis, Writing – original draft

e.baple@exeter.ac.uk (ELB); riazuddin@jhmi.edu (SAR); a.h.crosby@exeter.ac.uk (AHC); f3h@helix.nih.gov (JFH)

‡ SAR, AHC, JFH also contributed equally to this work.

Affiliation Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Competing Interests

The authors have declared that no competing interests exist.