Autoimmune retinopathy overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: M. Hassan, M.B.B.S
Overview
Historical Perspective
First cases of cancer associated retinopathy (CAR) were observed in 1976. In 1987, retinal antigen, recoverin, which is targeted by antibodies in the serum of CAR patients was identified. In 1997, the first case of autoimmune retinopathy (AIR) was reported in the absence of malignancy with clinical features similar to CAR. Since then, hundreds of cases of paraneoplastic AIR, and non-paraneoplastic AIR have been reported.
Classification
Autoimmune retinopathy (AIR) can be broadly classified into two main categories: non-paraneoplastic AIR (npAIR) and paraneoplastic AIR. Paraneoplastic AIR is most frequently associated with small-cell lung cancer, followed by breast and gynecologic (uterine, ovarian and cervical) carcinoma. Other cancer associations include hematological, prostate, colon and lymphomas. Non-paraneoplastic AIR, which is the most prevalent form of AIR, is seen in the absence of neoplasms. AIR can also be a secondary complication of other conditions such as retinitis pigmentosa, ocular trauma, birdshot retinopathy, acute zonal occult outer retinopathy (AZOOR), or multiple evanescent white dot syndrome (MEWDS).
Pathophysiology
Autoimmune retinopathy (AIR) is an autoimmune retinal degenerative disease caused by serum autoantibodies cross reacting against the retinal, and retinal like antigens.
There are a significant number of anti-retinal antibodies that are associated with AIR, these include antibodies to anti-recoverin, anti-alpha-enolase, anti-transducin, anti-CAII, anti-arrestin, anti-rhodopsin, anti-Muller glial cells, anti-mitofilin, anti-tintin, anti-COX. However, seronegative disease is also common. AIR has been observed in patients with a history of autoimmune diseases and neoplastic diseases i.e melanoma.
Causes
As with all autoimmune diseases, autoimmune retinopathy is caused by antibodies cross reacting against the retinal, and retinal like antigens.
Main antibodies against retinal proteins associated with AIR include, anti-recoverin, anti-alpha-enolase, anti-transducin, anti-CAII, anti-arrestin, anti-rhodopsin, anti-Muller glial cells, anti-mitofilin, anti-tintin, anti-COX. However, seronegative disease is also common.
Differentiating Autoimmune Retinopathy from other Diseases
Autoimmune retinopathy should be differentiated from retinal vascular diseases such as Behçet and systemic lupus erythematosus, white-dot syndrome spectrum disorders (particularly acute zonal occult outer retinopathy (AZOOR)), retinal degenerative disorders (such as retinitis pigmentosa (RP) and cone-rod dystrophy), and non-infectious and infectious uveitis syndromes.
Risk Factors
Several malignancies are associated with the development of carcinoma associated retinopathy (CAR) such as, small-cell lung cancer, breast and gynecologic (uterine, ovarian and cervical) carcinoma, hematological, prostate, colon carcinomas and lymphomas.
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms
Symptoms of autoimmune retinopathy depends on the type of retinal cell dysfunction. Cones dysfunction results in, photosensitivity, hemeralopia (inability to see as clearly in bright light), colour vision deficit, decreased visual acuity and central vision loss. Rods dysfunction results in, nyctalopia (night blindness), prolonged dark adaptation, and loss of peripheral vision. Photopsia is associated with dysfunction of both Rods and cones.
Non-neoplastic and neoplastic retinopathy has cones, rods or both cellular dysfunction. Cancer associated retinopathy is associated with both cones and rods dysfunction. Melanoma associated retinopathy is associated with rods dysfunction, and antibodies against bipolar cells.
Physical Examination
Autoimmune retinopathy is bilateral and may be asymmetric. Funduscopic changes include, retinal vasculature attenuation, diffuse retinal atrophy, mottling of the retinal pigment epithelium and optic disc pallor. There may also be constriction of the visual field with central or paracentral scotomas.
Laboratory Findings
Electrocardiogram
There are no ECG findings associated with autoimmune retinopathy.
Chest X Ray
Autoimmune retinopathy may be associated with small cell lung cancer, in which case hilar/perihilar mass with mediastinal widening due to lymph node enlargement may been seen on the chest X-ray.
CT
There are no CT findings associated with autoimmune retinopathy.
MRI
MRI is not indicated in the diagnosis of autoimmune retinopathy.
Echocardiography or Ultrasound
There are no echocardiography and ultrasound findings associated with autoimmune retinopathy.