Optical Coherence Tomography, Fundus Autofluorescence, and Fluorescein Angiography in Non-Paraneoplastic Autoimmune Retinopathy

Abstract

 

Purpose

 

Non-paraneoplastic autoimmune retinopathy (AIR) is a rare immune-mediated disease characterized by serum antiretinal autoantibodies with often normal or subtle fundus findings that can be difficult to diagnose. Our aim is to evaluate the imaging techniques of optical coherence tomography (OCT), fundus autofluorescence, and fluorescein angiography (FA) in patients with AIR to better characterize the disease.

 

Methods

 

A retrospective review of patients with a diagnosis of AIR evaluated at the NEI who underwent optical coherence tomography (OCT), fundus autofluorescence (FAF), and fluorescein angiography (FA).

 

Results

 

Twenty-four patients were identified with a clinical diagnosis of AIR. All patients had positive serum antiretinal antibody testing by either Western blot or immunohistochemistry. The group was predominantly female (19, 79.2%) and Caucasian (20, 83.3%). The mean age at presentation was 54.9 years old (range 37-88, median 51.5). All but 1 patient had bilateral disease (95.8%) and the most common symptom was decreased vision and photopsias. On clinical exam and review of fundus photography the most common findings were RPE mottling in 14 (58.3%), attenuated vessels in 10 (41.7%), bone spicules in 3 (12.5%), and a normal fundus in 4 (16.7%). OCT revealed 3 (12.5%) patients with cystoid macular edema. Drusen were present in 2 (8.3%) patients. Disturbance of the inner-segment/outer-segment junction on OCT was noted in 14 (58.3%) patients and an epiretinal membrane was present in 6 (25%) patients. FAF demonstrated speckling of the RPE limited to the macula in 13 (54.2%) patients and more extensive changes in 8 (33.3%) patients. One patient (4.2%) demonstrated evidence of retinal vasculitis and 2 (8.3%) patients revealed staining of the vessels on FA. All 3 patients with macular edema demonstrated mild perifoveal leakage.

 

Conclusions

 

A number of changes can be seen on imaging in patients with AIR, however there are no definite findings on OCT, FAF, or FA specific to the diagnosis. Imaging can help to rule out other diagnoses and understand causes of visual acuity loss, however psychophysical testing such as electroretinogram and visual field remain important for aiding in diagnosis and monitoring.

 

 

OCT demonstrating loss of the inner-segment/outer-segment junction.

 

 

FAF demonstrating abnormal autofluorescence, "speckling", in the macula.

 

Keywords: 432 autoimmune disease • 550 imaging/image analysis: clinical • 746 uveitis-clinical/animal model