A review of the immunologic findings observed in retinitis pigmentosa

Abstract Most patients suffering from retinitis pigmentosa (RP) inherit the disorder; however, the immune-pathologic features associated with this disease have yet to be extensively studied. Six reports correlate antiretinal immune activity with vision deterioration in RP patients. Some of these patients have sporadic RP that occurs in excess of expected gene segregation during inheritance. The hypothesis that a primary immune-mediated disease process occurs in this sporadic group is supported by significant associations of RP with autoimmune endocrinopathies and other immune-related conditions or factors; however, no immunologic difference regarding RP family history is reported in the peripheral blood studies of RP patients. Twenty-one percent to 51% of RP patients display antiretinal antibodies, whereas 19–58% have antiretinal lymphocyte reactivity to retinal extract, and 60–85% have activated T cells. Mutations in animal models of RP have been shown to cause endoplasmic reticulum stress that may initiate immunopathology for genetic RP, but oxidative stress also encourages immune cytotoxicity. In addition, necrotic cell death is evident, which promotes inflammatory conditions. We review mechanisms and evidence for an occult inflammation in genetic RP and examine reports of efficacy in retarding RP progression with anti-inflammatory agents in clinical trials.