Autoimmunity in hereditary retinal degeneration. I. Basic studies.

Abstract

One hundred and sixteen patients with retinitis pigmentosa (RP), 64 patients with other eye diseases, and 36 control subjects with no known eye disease were examined for antiretinal autoimmune activity. Sera were screened by indirect immunofluorescence on normal donor human eye sections to detect antibodies to human retinal antigens. Forty three of 116 RP patients (37%), 21 out of 64 non-RP patients with other eye diseases (33%), and 1 out of 42 controls (2%) had antibodies reacting with donor eye retinal antigens. Lymphocytes were tested by an in vitro transformation assay to detect cell mediated immunity to retinal antigens. Sixteen RP patients (19%), 11 non-RP patients (18%), and four controls (10%) showed lymphocyte sensitisation. Autoimmune responses were detected in many degenerative ocular disorders, but it is not known if they play a contributory pathogenic role.

Immune responsiveness to retinal S-antigen and opsin in serpiginous choroiditis and other retinal diseases

“…This fraction contains the uveitogenic and highly antigenic S-antigen. Other studies indicate as well that in retinitis pigmentosa sensitisation to soluble antigens from human retina may occur [6,9]. In the present investigation we found no significant sensitisation to S-antigen isolated from bovine origin in the group of patients suffering from this disease.…”

“…Retinal detachment may induce cell mediated immune responses to retinal proteins [3]. Different immunological abnormalities and variable in vitro responses to photoreceptor proteins have been found in retinitis pigmentosa [1,[4][5][6][7][8][9]. In addition, other tissue antigens may also elicit autoimmune responses.…”

A Potential Role for Immune Complex Pathogenesis in Drusen Formation

“…To the best of our knowledge, the presence of anti-RPE autoantibodies in the sera of individuals with ocular drusen has not been documented, although autoantibodies to retinal antigens have been detected in the sera of some AMD patients (Chant, Heckenlively and Meyers-Elliott, 1985 ;Penfold et al, 1990 ;Gurne et al, 1991). It can be envisioned that autoantigens might be exposed or newly expressed by RPE cells that are compromised by some physical or metabolic stress, and\or genetic abnormality.…”

Retinitis Pigmentosa and Other Dystrophies

“…The figure is complicated by the fact that some cases of RP may develop secondary AIR with rapid visual field loss and severe CME (Hajali et al, 2009;Heckenlively et al, 1999) 11,34,35 . Ninety percent of patients with RP and cysts do have circulating antiretinal antibodies by means of Western blot analysis, compared with 13% of patients with RP without macular cysts, and 6% of controls 36 . However, it remains to be determined whether the presence of antiretinal antibodies is a direct cause of worsening of RP.…”