Two Novel CAPN5 Variants Associated with Mild and Severe Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Phenotypes-Reference-Cited by-同舟云学术

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Two Novel CAPN5 Variants Associated with Mild and Severe Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Phenotypes

Published:2017-10-17 Issue:5 Volume:27 Page:693-698
ISSN:0927-3948
Container-title:Ocular Immunology and Inflammation
language:en
Short-container-title:Ocular Immunology and Inflammation

Author:

Randazzo Nadia M.¹²,Shanks Morag E.³,Clouston Penny³,MacLaren Robert E.¹²

Affiliation:

1. NIHR Biomedical Research Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom

2. Oxford Eye Hospital, University of Oxford NHS Trust, John Radcliffe Hospital, Oxford, United Kingdom

3. Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust Churchill Hospital, Oxford, United Kingdom

Funder

National Institute for Health Research

Oxford University Hospitals NHS Foundation Trust Biomedical Research Centre

Wellcome Trust

Publisher

Informa UK Limited

Subject

Ophthalmology,Immunology and Allergy

Link

https://www.tandfonline.com/doi/pdf/10.1080/09273948.2017.1370651

Reference25 articles.

1. A comparison of the causes of blindness certifications in England and Wales in working age adults (16–64 years), 1999–2000 with 2009–2010

2. Gene Therapy for Leber's Congenital Amaurosis is Safe and Effective Through 1.5 Years After Vector Administration

3. Preclinical Potency and Safety Studies of an AAV2-Mediated Gene Therapy Vector for the Treatment of MERTK Associated Retinitis Pigmentosa

4. Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial

5. RPGR Transcription Studies in Mouse and Human Tissues Reveal a Retina-Specific Isoform That Is Disrupted in a Patient With X-Linked Retinitis Pigmentosa

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1. Vitreous;Ocular Pathology;2025

2. Treatment and Visual Outcomes in Pediatric Patients with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy: A Cohort Study;Ocular Immunology and Inflammation;2024-09-10

3. Autosomal dominant neovascular inflammatory vitreoretinopathy with CAPN5 c.731T > C gene mutation; clinical management of a family cohort and review of the literature;Ophthalmic Genetics;2023-10-02

4. Bilateral macular hole in a patient with CAPN5-related neovascular inflammatory vitreoretinopathy;Documenta Ophthalmologica;2023-09-05

5. Impaired activity and membrane association of most calpain-5 mutants causal for neovascular inflammatory vitreoretinopathy;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2023-08

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