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Ocular Immunology and Inflammation Volume 27, 2019 - Issue 5
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Original Articles

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

Nadia M. Randazzo MBBCh, BSc(Hons)NIHR Biomedical Research Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom;Oxford Eye Hospital, University of Oxford NHS Trust, John Radcliffe Hospital, Oxford, United KingdomCorrespondence[email protected]
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,
Morag E. Shanks PhDOxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust Churchill Hospital, Oxford, United KingdomView further author information
,
Penny Clouston PhD, FRCPathOxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust Churchill Hospital, Oxford, United KingdomView further author information
&
Robert E. MacLaren MB ChB, DPhil, FRCOphthNIHR Biomedical Research Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom;Oxford Eye Hospital, University of Oxford NHS Trust, John Radcliffe Hospital, Oxford, United KingdomView further author information
Pages 693-698 | Received 07 Apr 2017, Accepted 19 Aug 2017, Published online: 17 Oct 2017

Citations (13)

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Tarek Tabbaa, Ankur A. Mehra, Natasha P. Kesav, Vinit B. Mahajan, Roy D. Swanson, Ryan Zubricky & Warren M. Sobol. (2023) 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 44:6, pages 559-567.
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Feng-Jie Xia, Jiao Lyu, Xiang Zhang, Ping Fei & Pei-Quan Zhao. (2023) Early-onset Neovascular Inflammatory Vitreoretinopathy Due to Two de Novo CAPN5 Mutations in Chinese Patients: A Case Series. Ocular Immunology and Inflammation 31:9, pages 1777-1784.
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Articles from other publishers (11)

Yong Je Choi, Se Joon Woo & Kwangsic Joo. (2023) Bilateral macular hole in a patient with CAPN5-related neovascular inflammatory vitreoretinopathy. Documenta Ophthalmologica 147:3, pages 211-216.
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James W. Geddes, Vimala Bondada, Dorothy E. Croall, David W. Rodgers & Jozsef Gal. (2023) Impaired activity and membrane association of most calpain-5 mutants causal for neovascular inflammatory vitreoretinopathy. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1869:6, pages 166747.
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Michel Baudry, Wenyue Su & Xiaoning Bi. 2023. Encyclopedia of Cell Biology. Encyclopedia of Cell Biology 852 864 .
Jozsef Gal, Vimala Bondada, Charles B. Mashburn, David W. Rodgers, Dorothy E. Croall & James W. Geddes. (2022) S-acylation regulates the membrane association and activity of Calpain-5. Biochimica et Biophysica Acta (BBA) - Molecular Cell Research 1869:9, pages 119298.
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Simone Spinozzi, Sonia Albini, Heather Best & Isabelle Richard. (2021) Calpains for dummies: What you need to know about the calpain family. Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics 1869:5, pages 140616.
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Mital Shah, Suzanne Broadgate, Morag Shanks, Penny Clouston, Jing Yu, Robert E. MacLaren, Andrea H. Németh, Stephanie Halford & Susan M. Downes. (2020) Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations . JAMA Ophthalmology 138:5, pages 544.
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Gabriel Velez, Young Joo Sun, Saif Khan, Jing Yang, Jonathan Herrmann, Teja Chemudupati, Robert E. MacLaren, Lokesh Gakhar, Soichi Wakatsuki, Alexander G. Bassuk & Vinit B. Mahajan. (2020) Structural Insights into the Unique Activation Mechanisms of a Non-classical Calpain and Its Disease-Causing Variants. Cell Reports 30:3, pages 881-892.e5.
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Myron Yanoff & Joseph W. Sassani. 2020. Ocular Pathology. Ocular Pathology 481 493.e2 .
Katherine J. Wert, Susanne F. Koch, Gabriel Velez, Chun‐Wei Hsu, MaryAnn Mahajan, Alexander G. Bassuk, Stephen H. Tsang & Vinit B. Mahajan. (2019) CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials . Human Mutation 40:12, pages 2377-2392.
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Cagney E. Coomer & Ann C. Morris. (2018) Capn5 Expression in the Healthy and Regenerating Zebrafish Retina. Investigative Opthalmology & Visual Science 59:8, pages 3643.
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Gabriel Velez, Alexander G. Bassuk, Kellie A. Schaefer, Brian Brooks, Lokesh Gakhar, MaryAnn Mahajan, Philip Kahn, Stephen H. Tsang, Polly J. Ferguson & Vinit B. Mahajan. (2018) A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay . Molecular Case Studies 4:3, pages a002519.
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