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Nonparaneoplastic and Paraneoplastic Autoimmune Retinopathies

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Albert and Jakobiec's Principles and Practice of Ophthalmology

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Abstract

Autoimmune retinopathy is a rare and poorly understood, inflammatory-mediated degenerative retinal disorder characterized by progressive loss of vision, scotomas, and photoreceptor dysfunction, initially described as a paraneoplastic disorder. Retinal dysfunction and vision loss are caused by an aberrant immunologic response involving circulating antibodies that target retinal antigens. Several such antiretinal antibodies have been discovered, but only very few have been definitively identified as pathogenic. A comprehensive understanding of the pathogenesis of AIR is still a subject of research. Diagnosis is based on a constellation of characteristic symptoms, careful ophthalmologic examination and testing, and laboratory evaluation. Fundus examination is usually unremarkable but may display signs of retinal pigment atrophy and vascular attenuation, optic nerve pallor, and minimal, if any, intraocular inflammation. Ophthalmic imaging can support the diagnosis and may show mild retinal vasculitis and macular edema. Electroretinography is characteristically abnormal, with decreased amplitudes of photopic and scotopic responses and prolonged implicit times. Visual fields can show various patterns of vision loss. The presence of specific antiretinal antibodies can aid in this diagnosis, but the overall low specificity and sensitivity of antiretinal antibody testing limit the utility of this test. Given the association of cancer with AIR, a comprehensive evaluation for underlying malignancy is mandatory. Left untreated, patients can have progressive visual decline, and spontaneous improvement has not been reported. Treatment is aimed at modulating the immune response and minimizing inflammatory destruction of the retina. Corticosteroids, traditional immunomodulatory therapies, plasmapheresis, rituximab, and intravenous immunoglobulin have been tried with varying degrees of clinical response. Treatment of the underlying malignancy, if present, has shown mixed responses. There is an expanding literature further characterizing these diseases, their diagnosis, and treatment, but there are not yet any widely accepted standards for diagnosis or treatment.

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Author information

Authors and Affiliations

  1. Uveitis Service, Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, USA

    Caroline L. Minkus & Lucia Sobrin

  2. Retina Service, Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, USA

    Lucia Sobrin

Authors
  1. Caroline L. Minkus
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  2. Lucia Sobrin
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Correspondence to Lucia Sobrin .

Editor information

Editors and Affiliations

  1. Department of Ophthalmology, Oregon Health & Science University Department of Ophthalmology, Portland, OR, USA

    Daniel Albert

  2. Massachusetts Eye and Ear, Boston, MA, USA

    Joan Miller

  3. Department of Ophthalmology, University of Illinois at Chicago Department of Ophthalmology, Chicago, IL, USA

    Dimitri Azar

  4. Department of Ophthalmology, Harvard Medical School, Boston, MA, USA

    Lucy H. Young

Section Editor information

  1. Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA

    Lucia Sobrin

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Minkus, C.L., Sobrin, L. (2021). Nonparaneoplastic and Paraneoplastic Autoimmune Retinopathies. In: Albert, D., Miller, J., Azar, D., Young, L.H. (eds) Albert and Jakobiec's Principles and Practice of Ophthalmology. Springer, Cham. https://doi.org/10.1007/978-3-319-90495-5_10-1

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  • DOI: https://doi.org/10.1007/978-3-319-90495-5_10-1

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  • Print ISBN: 978-3-319-90495-5

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