Autoimmune retinopathy associated with systemic autoimmune disease: a case series.

OBJECTIVE

To describe various presentations of autoimmune retinopathy (AIR) associated with systemic autoimmune diseases.

DESIGN

Case series.

PATIENTS AND

METHODS

Four patients with systemic autoimmune disorders and AIR are described in this report. The clinical and multimodal imaging characteristics, systemic work-up, genetic testing results, management, and course of disease are detailed.

RESULTS

The multimodal retinal features of 4 cases of AIR including the findings of fundus autofluorescence, optical coherence tomography, and electrophysiology necessary to document progressive photoreceptor loss are described. Each case of AIR was associated with a complicated autoimmune disorder. Case 1 was associated with chronic inflammatory demyelinating polyneuropathy and showed marked improvement with systemic steroid and intravenous immunoglobulin therapy. Case 2 was associated with rheumatoid arthritis, and the AIR condition progressed despite systemic immune therapy. Case 3 was associated with Lambert-Eaton myasthenic syndrome, and AIR developed 6 years later and stabilized with systemic immune therapy. Case 4 was associated with necrobiotic xanthogranuloma followed by AIR and was managed by systemic immune therapy.

CONCLUSIONS

AIR in association with these systemic conditions is rarely reported. Our cases highlight the gaps in our current understanding of the definition, systemic associations, pathogenesis, and management of AIR and the importance of multimodal imaging and a multidisciplinary approach in managing patients with suspected AIR.