Abstract
Purpose: :
To describe the clinical features, full–field and multifocal electroretinogram (ffERG and mfERG), and antiretinal autoantibody findings in four unique patients with presumed autoimmune retinopathy.
Methods: :
Visual fields, ffERG, and often mfERG were performed in patients presenting with unexplained subacute visual symptoms, including reduced central and/or peripheral vision, nyctalopia, photophobia, altered color perception, photopsias, and persistence of images. Anti–retinal antibodies were tested by Western blot using human protein extract and immunohistochemistry using donor retina.
Results: :
Patient #1 (age 34) had unilateral regional field loss, normal ffERG, abnormal mfERG corresponding to the unilateral field loss, and anti–48–kDa protein (arrestin) autoantibodies. Patient #2 (age 76) presented with photopsias, asymmetric field loss (central scotoma OD and irregular peripheral loss OS), and abnormal ffERG and mfERG; her sera harbored anti–28–kDa protein (calbindin) autoantibodies. Patient #3 (age 54), presented with reduced acuity, visual auras, a pink cast to vision, and persistence of images; she had normal ffERG and mfERG, and autoantibodies directed against a 60–kDa protein (rhodopsin kinase). Patient #4 (age 68 yr) presented with Parkinson’s disease, nyctalopia, reduced acuity, moderately abnormal ffERG, and antiretinal autoantibodies directed against a 30–kDa protein (carbonic anhydrase). Immunocytochemistry disclosed binding to specific cell types in the retina for each of these antibodies.
Conclusions: :
Autoantibodies detected in patients with retinal disease are frequently directed against proteins that play essential roles in retinal function, including phototransduction. Electroretinography was crucial in defining the degree and level of retinal dysfunction. The antibodies found in our patients persisted over the course of visual symptoms and their significance in pathogenicity is under investigation.
Keywords: retina • autoimmune disease • electroretinography: clinical