Paraneoplastic visual syndromes
- Josep Dalmau, MD, PhD
Josep Dalmau, MD, PhD
- ICREA Professor of Neurology
- Hospital Clinic/IDIBAPS, University of Barcelona, Spain
- Adjunct Professor of Neurology
- University of Pennsylvania
- Myrna R Rosenfeld, MD, PhD
Myrna R Rosenfeld, MD, PhD
- Professor of Neurology
- Hospital Clinic/IDIBAPS, University of Barcelona, Spain
- Adjunct Professor of Neurology
- University of Pennsylvania
Paraneoplastic neurologic syndromes are a heterogeneous group of neurologic disorders associated with systemic cancer and caused by mechanisms other than metastases, metabolic and nutritional deficits, infections, coagulopathy, or side effects of cancer treatment. In most cases, their pathogenesis is believed to be immune-mediated.
Paraneoplastic visual syndromes are rare; they include cancer-associated retinopathy (CAR), melanoma-associated retinopathy (MAR), paraneoplastic optic neuropathy (optic neuritis), and bilateral diffuse uveal melanocytic proliferation.
This topic discusses paraneoplastic visual syndromes. An overview of paraneoplastic syndromes and other paraneoplastic disorders are discussed separately. (See "Overview of paraneoplastic syndromes of the nervous system" and "Paraneoplastic syndromes affecting peripheral nerve and muscle" and "Paraneoplastic syndromes affecting the spinal cord and dorsal root ganglia" and "Paraneoplastic and autoimmune encephalitis" and "Paraneoplastic cerebellar degeneration".)
Cancer-associated retinopathy (CAR), while rare, is probably the most common of the paraneoplastic visual syndromes. The pathogenesis of CAR is believed to be a B-cell mediated autoimmune response directed against an antigen expressed by both tumor and retina . T-cell responses may also play a role.
Although at least 20 antigens have been described in the CAR syndrome, the first described was recoverin, a calcium-binding protein involved in transduction of light by photoreceptors (picture 1) [2-4]. Recoverin is expressed in the tumors of patients with lung cancer with or without CAR; antibodies to CAR may occur in patients without visual symptoms, although the titres are relatively low compared with patients with visual loss [4,5]. Anti-recoverin antibodies have been shown to induce apoptotic death of photoreceptor cells in vitro . Anti-enolase antibodies are associated with a less severe retinopathy that affects mainly the cones; not all patients with anti-enolase associated retinopathy have cancer [7-10]. Other antigens have been identified in patients with CAR; about 35 percent of patients with CAR are seronegative suggesting that other antigens remain to be characterized [11,12].
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