Autosomal dominant neovascular inflammatory vitreoretinopathy with CAPN5 c.731T > C gene mutation; clinical management of a family cohort and review of the literature-Reference-Cited by-同舟云学术

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Autosomal dominant neovascular inflammatory vitreoretinopathy with CAPN5 c.731T > C gene mutation; clinical management of a family cohort and review of the literature

Published:2023-10-02 Issue:6 Volume:44 Page:559-567
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Tabbaa Tarek¹,Mehra Ankur A.¹,Kesav Natasha P.¹^ORCID,Mahajan Vinit B.²³,Swanson Roy D.¹,Zubricky Ryan¹,Sobol Warren M.¹

Affiliation:

1. Department of Ophthalmology, Vitreoretinal Surgery Case Western Reserve University-University Hospitals Cleveland, Cleveland, Ohio, USA

2. Molecular Surgery Laboratory, Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, California, USA

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

Funder

Department of Ophthalmology

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2023.2255257

Reference26 articles.

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

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

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

4. Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy

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

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