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T. G. Damarjian, J. H. Fingert, R. F. Mullins, M. Ehlinger, J. A. Owens, J. M. Hoffman, J. C. Folk, V. B. Mahajan, E. M. Stone; Immunological Basis of Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV). Invest. Ophthalmol. Vis. Sci. 2008;49(13):209. doi: https://doi.org/.
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ADNIV is an autosomal dominant disease characterized by progressive pigmentary retinal degeneration, loss of the ERG, and peripheral field loss. The degeneration is complicated by anterior segment and vitreous inflammation, cystoid macular edema (CME), retinal neovascularization, retinal detachment, and phthisis. Although ADNIV is a degenerative disease, we hypothesized that inflammation may play a primary role in ADNIV pathogenesis.
Two ADNIV eye specimens were examined with panels of standard histopathological and immunohistochemical markers (CD3, CD4, CD8, CD19, CD20, CD15, CD68, CD136, CD34, CD31, GFAP and s100). Clinical phenotypes were classified with optical coherence tomography (OCT). A review of patients who had CME due to ADNIV and were treated with local immunosuppression was conducted. Then, using a phenotype-guided bioinformatics approach, candiate genes were identified within the ADNIV interval on chromosome 11q13.
Immunohistopathology revealed a T-cell infiltrate in ADNIV eyes. OCT demonstrated early vision loss due to severe cystoid macular edema with leakage on fluorescein angiography. The CME and vision improved after either subtenon's triamcinolone or fluocinolone implants in ADNIV patients. Gene ontogeny terms corresponding to this clinical response and immuno-histopathology studies were identified and queried against over 100 candidate genes, and ranked candidates emerged for directed mutational analysis.
Aberrant immune-cell mediated processes may underlie ADNIV. Clinical symptoms and vision loss can be mitigated by local corticosteroid therapy. Identification of the genetic cause of ADNIV will provide critical insight into the degenerative and inflammatory mechanisms of this disease.
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