Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype

This work was supported by Moorfields Eye Charity (GR001203 and Stephen and Elizabeth Archer in memory of Marion Woods), National Eye Research Centre (SAC051), National Institute of Health Research Biomedical Research Centre (NIHR-BRC) at Moorfields Eye Hospital and UCL Institute of Ophthalmology. GA is funded by a Fight For Sight UK Early Career Investigator Award (5045/46) and NIHR-BRC at Great Ormond Street Hospital Institute for Child Health. NJ is funded by Moorfields Eye Charity (GR001203), National Eye Research Centre (SAC051) and NIHR-BRC at Moorfields Eye Hospital and UCL Institute of Ophthalmology. JB and OAM are funded by the Wellcome Trust (206619/Z/17/Z). FLR was funded by the Cambridge NIHR Biomedical Research Centre and NIHR Bioresource for Rare Diseases. The work of CHZL, CBH and SR is funded by the Foundation Fighting Blindness USA Project Program Award, grant no. PPA‐ 0517–0717‐RAD, Fighting Blindness Ireland (FB18CRE), the Algemene Nederlandse Vereniging ter Voorkoming van Blindheid, Oogfonds, Landelijke Stichting voor Blinden en Slechtzienden; Rotterdamse Stichting Blindenbelangen, Stichting Blindenhulp, Stichting tot Verbetering van het Lot der Blinden, and Stichting Blinden-Penning. The work of JR was funded by the Velux Stiftung (Project number: 1129). TH was supported by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation; grant no. 418081722 and 433158657). Genome sequencing at the Institute of Medical Genetics and Applied Genomics, University of Tübingen, Germany was supported in part by Illumina. CR is funded by the Swiss National Science Foundation (grant # 176097).