Lymphocyte infiltration in CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy
Vinit B Mahajan,1,2 Jonathan H Lin3
1Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA; 2Omics Laboratory, University of Iowa Hospitals and Clinics, Iowa City, IA, USA; 3Departments of Pathology and Ophthalmology, University of California San Diego, La Jolla, CA, USA
Purpose: To describe immunohistopathological findings in autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV).
Methods: An enucleated eye specimen from a patient with Stage V ADNIV was examined using standard histopathological methods and lymphocyte markers.
Results: A c.731T>C CAPN5 mutation resulted in a p.Leu244Pro substitution in calpain-5. The eye showed exudative retinal detachment and neovascularization, intraocular fibrosis, and features of phthisis bulbi. Chronic inflammatory CD3-positive cell infiltrates were identified throughout the uvea, vitreous and retina, consistent with chronic uveitis.
Conclusion: Mutations in CAPN5 trigger autoimmune uveitis characterized by inflammatory T-cells and severe neovascularization.
Keywords: autosomal dominant neovascular inflammatory vitreoretinopathy, ADNIV, CAPN5, uveitis, CD3
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