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Non-paraneoplastic autoimmune retinopathy: multimodal testing characteristics of 13 cases.
Journal of Ophthalmic Inflammation and Infection 2019 Februrary 27
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.
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.
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