Autoimmune retinopathy: A Review

Abstract

Autoimmune retinopathy (AIR) is a rare and still poorly understood immune-mediated disease that may cause inflammation from circulating autoantibodies against the retina. It may be related to history of autoimmune disease in the patient or in a family member or the presence of neoplastic disease in the individual. The disease may be subdivided into paraneoplastic and non-paraneoplastic AIR. When related to melanoma, it is referred to as MAR, and when related to other cancers, it is called CAR. The exact prevalence of AIR is unknown. It mainly affects older adults. Patients present with bilateral and asymmetric scotomas, photopsias, visual field defects, with rapidly progressive visual loss in late onset. In the initial stage, fundus examination is unremarkable, and in late stages, there is limited retinal epitheliopathy and vascular attenuation, with or without optic disc pallor, associated or not with intraocular inflammation and with no evidence of degenerative retinal disease. A clinical investigation with detailed anamnesis and laboratory tests should be performed to search for an associated neoplasm. Ophthalmologic and complementary examinations such as full-field electroretinogram, optical coherence tomography, visual field and fundus autofluorescence, help the diagnosis. Blood tests to search for autoantibodies should be requested. Management consists of prolonged immunosuppression, which may be combined with antioxidant vitamins. In general, the prognosis is uncertain, so the disease still needs to be better understood. More studies should be performed to improve diagnostic measures and define specific management that could preserve or even restore vision.

Identification and characterization of novel TRPM1 autoantibodies from serum of patients with melanoma-associated retinopathy

“…In this study, we report three novel cases with MAR being in fact females. It has been suggested that MAR is more prevalent in male [8], due to melanoma being more prevalent in male patients, especially after 50 years [58,59]. However, our studied cases were all female patients.…”

“…Paraneoplastic retinopathies are rare retinal disorders usually associated with the presence of autoantibodies against retinal proteins following the development of a primary tumor or a metastasis [1][2][3][4][5]. Two major types of paraneoplastic retinopathies with an initial normal fundus have been reported: (1) cancer-associated retinopathy (CAR), which leads to a rapid and severe visual dysfunction with primary photoreceptor alterations and is most commonly associated with small-cell carcinomas of the lung and less frequently associated with breast, endometrial and other cancers [6,7]; (2) melanoma-associated retinopathy (MAR), traditionally associated with metastatic melanoma [2] but now well recognized in association with other cancers such as carcinomas [8][9][10][11]. Patients presenting with MAR usually experience recent night blindness, photopsias (various perception of flickering lights), decreased vision and alterations of the visual field.…”

Intravenous Immunoglobulin for Management of Non-paraneoplastic Autoimmune Retinopathy

“…Underlying malignancies should be ruled out before the diagnosis of npAIR is made. [3] Signs and symptoms may be diverse and overlapping, depending on the cell type and antigen targeted by ARAs. Patients usually present with acute or subacute, bilateral vision loss, visual field defects, nyctalopia, scotomas, and photopsia.…”

“…The management of npAIR is also controversial. There is no global consensus on the management or prognosis of AIRs [3] because most of our knowledge comes from case reports and case series. Suggested approaches include systemic and local corticosteroids, antimetabolites such as mycophenolate mofetil, azathioprine, and T cell inhibitors such as cyclosporine, targeted B-cell therapy such as anti-CD20 monoclonal antibody (rituximab), IVIG, and plasmapheresis.…”

Adult Presentation of X-Linked Retinoschisis: Patient and Physician Perspectives

“…Mr Price-Hunt was also checked extensively for autoimmune retinopathy (AIR), which can sometimes present with diffuse retinal atrophy, macular oedema, and minimal findings on ophthalmic examination [8]. AIR is a type of immune-mediated disease caused by circulating autoantibodies against the retina, which can on occasion be due to the presence of neoplastic disease [9]. This was why he had investigations to rule out neoplastic disease, including fullbody computed tomography (CT) scans, positron emission tomography (PET) scans, a magnetic resonance imaging (MRI) brain scan with contrast and a cerebrospinal fluid examination to rule out infection and autoimmune and demyelinating diseases.…”