Non-paraneoplastic autoimmune retinopathy: multimodal testing characteristics of 13 cases

Abstract

Background Non-paraneoplastic autoimmune retinopathy (npAIR) is a rare autoimmune disease that primarily affects retinal photoreceptor function and results in profound and often times permanent vision loss. Delay in diagnosis and treatment initiation may contribute to the poor visual prognosis. Methods A retrospective chart review of all patients diagnosed with autoimmune retinopathy at the University of Wisconsin-Madison Eye Clinics between January 2012 and January 2017 was performed. Twenty eyes of 15 patients had evidence of any form of autoimmune retinopathy through a combination of symptoms, ocular findings, visual fields, optical coherence tomography, fundus autofluorescence, full-field and multifocal electroretinography, and serum anti-retinal antibodies. Clinical records were also analyzed for demographic data, systemic comorbidities, visual acuity, treatment employed, and disease progression. Results We identified 18 eyes from 13 patients who fit the criteria for non-paraneoplastic autoimmune retinopathy. Sixty-nine percent of patients were female with a mean age of symptom onset of 56.9 ± 20.3 years. Sixty-seven percent of eyes had an associated autoimmune condition, most commonly hypothyroidism. Serum testing revealed a preponderance of antibodies against carbonic anhydrase II, while imaging revealed characteristic changes. Fundus autofluorescence most commonly showed hyperautofluorescence around the macula. The delayed diagnosis led to a larger reduction in the horizontal extent of ellipsoid zone in 1-mm perifoveal area on optical coherence tomography with resulting visual decline. There was no difference in the change of visual acuity when stratifying for patients with autoimmune conditions ( p = 0.52) or treatment status ( p = 0.50). None of the patients who received treatment developed contralateral eye involvement or experienced disease progression based on visual acuity or symptoms. Conclusion Non-paraneoplastic autoimmune retinopathy has a wide and often challenging to diagnose spectrum of clinical symptoms and imaging findings. Immunosuppressive therapy can be considered empiric in the face of a suggestive presentation and can be initiated after an evaluation of clinical findings and multimodal testing, though treatment does not appear to affect regeneration of the ellipsoid zone on OCT or impact visual acuity. Treatment should be primarily used to prevent disease progression and contralateral eye involvement. Trial registration N/A

Intravenous Immunoglobulin for Management of Non-paraneoplastic Autoimmune Retinopathy

“…A recent study showed that although the treatment of npAIR did not produce anatomical improvement, it ensured stability of symptoms and prevented involvement of the second eye in unilateral cases. [5] The disappearance of photopsia, subjective improvement in our patient's vision quality, and stabilization of the disease highlight the possible role of IVIG in npAIR management.…”

“…[1] Therefore, ancillary tests [4] Finally, to establish the diagnosis and rule out other causes, FAG, FAF, ICGA, visual field (VF), ERG, and OCT may be helpful. Khanna et al reported multimodal imaging properties of npAIR, [5] including the characteristic pattern of diffuse or granular, stippled hyperautofluorescence throughout the posterior pole on FAF, peripheral visual field constriction, amplitude reduction under scotopic and photopic conditions on ERG, and attenuations of the outer nuclear layer and ellipsoid zone parafoveally on OCT. Moreover, they suggested a diagnostic algorithm for clinical use according to which pathognomonic findings should be obtained from at least one objective, structural test (SD-OCT and/or FAF) and one objective, functional test (ERG and/or VF, if available).…”

Anti-retinal autoantibodies in myopic macular degeneration: a pilot study

“…Autoimmune mechanisms have been described related to these conditions, including multiple evanescent white dot syndrome (MEWDS) and punctate inner choroidopathy (PIC) [34][35][36][37]. As white dot syndromes typically afflict women more than men [38], our results where all patients had at least one ARA must be taken with the consideration that our series of high myopes had a female predominance (75%). None of our patients had typical features for PIC or MEWDS, although it is not possible to be certain that these patients never had these conditions in the past as some patients with MEWDS may have no obvious signs after the acute event.…”

Autoimmune retinopathy: findings and limitations from optical coherence tomography angiography

“…Non-paraneoplastic autoimmune retinopathy is the most common subtype and is frequently associated with an underlying autoimmune etiology such as thyroid or connective tissue diseases. Acute zonal occult outer retinopathy is a considered subtype of npAIR and can show a trizonal pattern of retinal and retinal pigment epithelium (RPE) degeneration [3].…”

“…CAR is the most common paraneoplastic retinopathy and is associated with small cell lung cancer but can also be seen with genitourinary cancers [4]. Visual symptoms precede the diagnosis of a systemic malignancy in approximately 50% of cases, highlighting the need for a systemic workup whenever there is suspicion for CAR [1,3,5]. MAR is frequently observed in patients with a prior diagnosis of cutaneous or uveal melanoma [3].…”