Abstract
PurposeTo describe immunohistopathological findings in autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV).MethodsAn enucleated eye specimen from a patient with Stage V ADNIV was examined using standard histopathological methods and lymphocyte markers.ResultsA 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.ConclusionMutations in CAPN5 trigger autoimmune uveitis characterized by inflammatory T-cells and severe neovascularization.
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