Title | Lymphocyte infiltration in CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy. |
Publication Type | Journal Article |
Year of Publication | 2013 |
Authors | Mahajan, Vinit B., and Lin Jonathan H. |
Journal | Clin Ophthalmol |
Volume | 7 |
Pagination | 1339-45 |
Date Published | 2013 |
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. |
Alternate Journal | Clin Ophthalmol |