Progressive, Symmetrical, Painless Visual Loss

Abstract

A 75-year-old woman with a medical history of mixed connective tissue disease and breast adenocarcinoma sought care for subacute visual “haze” in both eyes characterized by light sensitivity, particularly with commercial fluorescent lighting, progressing over weeks. Visual acuity was 20/40 in each eye. The pupils were equal in size with no relative afferent pupillary defect but were sluggishly reactive to light. Automated perimetry documented peripheral constriction in both eyes. Ocular motility was normal. Ophthalmoscopy showed mild retinal pigment epithelial changes in both maculae with normal optic nerves. Optical coherence tomography showed macular thinning in both eyes. Findings of fundus autofluorescence were normal. Serum testing documented the presence of 3 retinal antibodies, against 30-, 36-, and 46-kDa proteins. A paraneoplastic panel was negative except for low-level ganglionic (alpha 3) acetylcholine receptor autoantibody positivity, which was interpreted as nonspecific autoimmunity. Electroretinography indicated severely decreased scotopic and photopic a and b waves. A diagnosis of paraneoplastic or nonparaneoplastic autoimmune retinopathy was made, consistent with the clinical presentation, optical coherence tomography and electroretinography findings, and the presence of retinal antibodies. There are no established evidence-based guidelines to assist treatment decisions in autoimmune retinopathy, although several lines of therapy have been advocated. No specific immunosuppressive therapy was undertaken in this case. However, if her vision had continued to rapidly worsen over time, empiric immunotherapy would have been instituted. Autoimmune retinopathy includes paraneoplastic and nonparaneoplastic forms. The best-characterized autoimmune retinopathy phenotype is cancer-associated retinopathy. Cancer-associated retinopathy typically presents with subacute, painless, bilateral (although asymmetry has been described) vision loss that is progressive over weeks to months, reflecting both rod and cone dysfunction in most patients. Visual symptoms precede recognition of an underlying cancer in approximately 50% of cases.