UC Irvine

Purpose

Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is a familial blinding disease of unknown pathophysiology. The eyes and sera from patients with ADNIV were studied to understand the immune response in this condition.

The clinical case of an ADNIV patient was reviewed. Eye specimens from two donors with ADNIV were examined with a panel of standard histopathological stains and immunohistochemical markers. These findings were compared to specimens of noninflammatory eye disease. Sera from twelve patients were also tested against retinal protein western blots for the presence of autoretinal antibodies.

Each of the ADNIV and control eyes showed degenerative features of phthisis bulbi. Immunohistological stains revealed a supraciliary T-cell infiltrate in ADNIV eyes composed of cluster of differentiation-4 (CD4) positive and cluster of differentiation-8 (CD8)-positive cells. No immunoglobulin or B cells were detected in these eyes. Inflammatory cells were absent from the control eyes. No specific autoretinal antibodies were detected in ADNIV sera.

Aberrant T-cell-mediated processes may underlie ADNIV, and therapeutics directed at T cells may better manage inflammation in these patients. Genes related to T-cell function are high priority screening candidates.