Review of Autoimmune Retinopathy and Its Association with Melanoma and Other Malignancies

Abstract

Autoimmune Retinopathy (AIR) is an immune-mediated degenerative retinal disorder affecting retinal cell function leading to progressive vision loss. This review aims to quantify documented AIR cases in the literature; and elucidate common visual symptoms, AIR and cancer diagnosis chronology and autoantibodies’ role in AIR pathophysiology. A literature search extracted 58 Melanoma-Associated Retinopathy (MAR) and 76 Cancer-Associated Retinopathy (CAR) cases; CAR primarily consisted of lung, endometrial, ovarian and breast cancer. The majority of MAR cases presented with a melanoma diagnosis preceding onset of AIR symptoms, while the majority of CAR cases presented with AIR symptoms preceding the diagnosis of malignancy. MAR patients experienced nyctalopia and photopsias while CAR patients experienced vision loss, photopsias and nyctalopia. Anti-recoverin is the most well-established antibody implicated in AIR pathogenicity. However, autoantibodies to α-enolase, aldolase A and C, transducin-α, carbonic anhydrase II, arrestin, GAPDH and Transient Receptor Potential cation channel, subfamily M, member 1 (TRPM1) are also key components of retinal degeneration. AIR is likely caused by antibodies-targeting retinal antigens aberrantly expressed in cancer cells-penetrating the blood-retinal barrier and cross-reacting with retinal cell antigens, inducing retinal pathology. It may be appropriate to include AIR vision panel screening as standard of care for individuals with personal/family history or signs/symptoms of retinopathy or cancers for early detection and intervention.