Early Onset Neovascular Inflammatory Vitreoretinopathy Due to a De Novo CAPN5 Mutation: Report of a Case-Reference-Cited by-同舟云学术

Early Onset Neovascular Inflammatory Vitreoretinopathy Due to a De Novo CAPN5 Mutation: Report of a Case

Published:2019-04-15 Issue:5 Volume:27 Page:706-708
ISSN:0927-3948
Container-title:Ocular Immunology and Inflammation
language:en
Short-container-title:Ocular Immunology and Inflammation

Author:

O’Keefe Ghazala¹,Hanif Adam M.¹,Mahajan Vinit B.²³,Jain Nieraj¹

Affiliation:

1. Department of Ophthalmology, Emory University School of Medicine, Atlanta, GA, USA

2. Byers Eye Institute, Omics Laboratory, Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, CA, USA

3. Veterans Affairs Palo Alto Health Care System, Palo Alto, CA, USA

Funder

Foundation Fighting Blindness

Publisher

Informa UK Limited

Subject

Ophthalmology,Immunology and Allergy

Link

https://www.tandfonline.com/doi/pdf/10.1080/09273948.2019.1582783

Reference5 articles.

1. Velez G, Bassuk AG, Colgan D, Tsang SH, Mahajan VB Therapeutic drug repositioning using personalized proteomics of liquid biopsies. LID - 10.1172/jci.insight.97818 [doi] LID - 97818 [pii]. (2379-3708 (Electronic)).

2. Calpain-5 Mutations Cause Autoimmune Uveitis, Retinal Neovascularization, and Photoreceptor Degeneration

3. A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay

4. CAPN5mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model

5. Photoreceptor Cell–Derived CAPN5 Regulates Retinal Pigment Epithelium Cell Proliferation Through Direct Regulation of SLIT2 Cleavage

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2. 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

3. 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

4. Early-onset Neovascular Inflammatory Vitreoretinopathy Due to Two de Novo CAPN5 Mutations in Chinese Patients: A Case Series;Ocular Immunology and Inflammation;2022-11-11

5. Long-Term Outcomes and Risk Factors for Severe Vision Loss in Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV);American Journal of Ophthalmology;2022-01