Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial-Reference-Cited by-同舟云学术

Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial

Published:2020-12-01 Issue:12 Volume:138 Page:1241
ISSN:2168-6165
Container-title:JAMA Ophthalmology
language:en
Short-container-title:JAMA Ophthalmol

Author:

Kuehlewein Laura¹²,Zobor Ditta¹,Andreasson Sten Olof³,Ayuso Carmen⁴⁵,Banfi Sandro⁶,Bocquet Beatrice⁷⁸,Bernd Antje S.²,Biskup Saskia⁹,Boon Camiel J. F.¹⁰¹¹,Downes Susan M.¹²,Fischer M. Dominik¹²,Holz Frank G.¹³,Kellner Ulrich¹⁴¹⁵,Leroy Bart P.¹⁶¹⁷¹⁸¹⁹,Meunier Isabelle⁷⁸,Nasser Fadi¹,Rosenberg Thomas²⁰,Rudolph Günther²¹,Stingl Katarina²,Thiadens Alberta A. H. J.²²,Wilhelm Barbara²³,Wissinger Bernd²⁴,Zrenner Eberhart¹²⁵,Kohl Susanne²⁴,Weisschuh Nicole²⁴,

Affiliation:

1. Institute for Ophthalmic Research, Centre for Ophthalmology, Eberhard Karls University Tübingen, Germany

2. University Eye Hospital, Centre for Ophthalmology, Eberhard Karls University Tübingen, Germany

3. Lund University, Skane University Hospital, Department of Ophthalmology, Lund, Sweden

4. Department of Genetics, IIS–Fundación Jiménez Díaz–University Hospital; Universidad Autónoma de Madrid, Madrid, Spain

5. Centre for Biomedical Research on Rare Diseases, Madrid, Spain

6. Telethon Institute of Genetics and Medicine, Pozzuoli (NA) and Medical Genetics, Department of Precision Medicine, University of Campania “Luigi Vanvitelli,” Naples, Italy

7. Institute for Neurosciences of Montpellier Unité 1051, University of Montpellier, Montpellier, France

8. National Center for Rare Diseases, Genetics of Sensory Diseases, University Hospital, Montpellier, France

9. Praxis für Humangenetik Tübingen, Tübingen, Germany

10. Department of Ophthalmology, Leiden University Medical Center, Leiden University, Leiden, the Netherlands

11. Department of Ophthalmology, Amsterdam University Medical Centers, Amsterdam, the Netherlands

12. Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford, United Kingdom

13. Department of Ophthalmology, University of Bonn, Germany

14. Rare Retinal Disease Center, AugenZentrum Siegburg, MVZ Augenärztliches Diagnostik- und Therapiecentrum GmbH, Siegburg, Germany

15. RetinaScience, Bonn, Germany

16. Department of Ophthalmology Ghent University Hospital, Ghent, Belgium

17. Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium

18. Division of Ophthalmology, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania

19. Center for Cellular & Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania

20. Department of Ophthalmology, Kennedy Center, Rigshospitalet, Copenhagen, Denmark

21. Ophthalmogenetik, Augenklinik, Klinikum der Universität München, Munich, Germany

22. Department Ophthalmology, Erasmus MC, Rotterdam, the Netherlands

23. STZ Eyetrial, Centre for Ophthalmology, Eberhard Karls University Tübingen, Tübingen, Germany

24. Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, Eberhard Karls University Tübingen, Tübingen, Germany

25. Werner Reichardt Centre for Integrative Neuroscience, Eberhard Karls University Tübingen, Tübingen, Germany

Publisher

American Medical Association (AMA)

Subject

Ophthalmology

Link

https://jamanetwork.com/journals/jamaophthalmology/articlepdf/2771740/jamaophthalmology_kuehlewein_2020_oi_200077_1607382303.60735.pdf

Reference35 articles.

1. Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase.;Huang;Nat Genet,1995

2. Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.;Dryja;Proc Natl Acad Sci U S A,1995

3. cGMP signaling in vertebrate retinal photoreceptor cells.;Zhang;Front Biosci,2005

4. Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.;Dryja;Invest Ophthalmol Vis Sci,1999

5. Longitudinal clinical follow-up and genetic spectrum of patients with rod-cone dystrophy associated with mutations in PDE6A and PDE6B.;Khateb;JAMA Ophthalmol,2019

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