Lymphocyte infiltration in CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy

Abstract

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. © 2013 Mahajan and Lin.