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Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa

Authors

  • Manickam Nick Muthiah Cell and Gene Therapy, University College London Institute of Ophthalmology, London, UK Vitreoretinal Research, Moorfields Eye Hospital NHS Foundation Trust, London, UK PubMed articlesGoogle scholar articles
  • Angelos Kalitzeos Cell and Gene Therapy, University College London Institute of Ophthalmology, London, UK Moorfields Eye Hospital NHS Foundation Trust, London, UK PubMed articlesGoogle scholar articles
  • Kate Oprych Great Ormond Street Hospital For Children NHS Trust, London, UK PubMed articlesGoogle scholar articles
  • Navjit Singh Cell and Gene Therapy, University College London Institute of Ophthalmology, London, UK Moorfields Eye Hospital NHS Foundation Trust, London, UK PubMed articlesGoogle scholar articles
  • Michalis Georgiou Cell and Gene Therapy, University College London Institute of Ophthalmology, London, UK Moorfields Eye Hospital NHS Foundation Trust, London, UK PubMed articlesGoogle scholar articles
  • Genevieve Ann Wright National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, Greater London, UK PubMed articlesGoogle scholar articles
  • Anthony G Robson National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, Greater London, UK Electrophysiology, Moorfields Eye Hospital NHS Foundation Trust, London, UK PubMed articlesGoogle scholar articles
  • Gavin Arno Cell and Gene Therapy, University College London Institute of Ophthalmology, London, UK Great Ormond Street Hospital For Children NHS Trust, London, UK PubMed articlesGoogle scholar articles
  • Kamron Khan Department of Ophthalmology, Leeds Teaching Hospitals NHS Trust, Leeds, UK Department of Ophthalmology, Calderdale and Huddersfield NHS Foundation Trust, Huddersfield, West Yorkshire, UK PubMed articlesGoogle scholar articles
  • Michel Michaelides Cell and Gene Therapy, University College London Institute of Ophthalmology, London, UK Moorfields Eye Hospital NHS Foundation Trust, London, UK PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Manickam Nick Muthiah, Cell and Gene Therapy, University College London Institute of Ophthalmology, London EC1V 9EL, UK; drnickmuthiah{at}gmail.com; Prof Michel Michaelides, Cell and Gene Therapy, University College London Institute of Ophthalmology, London EC1V 9EL, UK; michel.michaelides{at}ucl.ac.uk
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Citation

Muthiah MN, Kalitzeos A, Oprych K, et al
Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa
British Journal of Ophthalmology 2022;106:1274-1281.

Publication history

  • Received October 29, 2020
  • Revised March 6, 2021
  • Accepted March 23, 2021
  • First published May 24, 2021.
Online issue publication 
November 15, 2022

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© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.