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Ocular Paraneoplastic Syndromes

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Ocular Paraneoplastic Syndromes biomedicines Review Ocular Paraneoplastic Syndromes Joanna Prze´zdziecka-Dołyk 1,2, Anna Brzecka 3 , Maria Ejma 4, Marta Misiuk-Hojło 1 , Luis Fernando Torres Solis 5, Arturo Solís Herrera 6, Siva G. Somasundaram 7 , Cecil E. Kirkland 7 and Gjumrakch Aliev 8,9,10,11,* 1 Department of Ophthalmology, Wroclaw Medical University, Borowska 213, 50-556 Wrocław, Poland; [email protected] (J.P.-D.); [email protected] (M.M.-H.) 2 Department of Optics and Photonics, Wrocław University of Science and Technology, Wyspia´nskiego27, 50-370 Wrocław, Poland 3 Department of Pulmonology and Lung Oncology, Wrocław Medical University, Grabiszy´nska 105, 53-439 Wrocław, Poland; [email protected] 4 Department of Neurology, Wroclaw Medical University, Borowska 213, 50-556 Wrocław, Poland; [email protected] 5 The School of Medicine, Universidad Autónoma de Aguascalientes, Aguascalientes 20392, Mexico; [email protected] 6 Human Photosynthesis© Research Centre, Aguascalientes 20000, Mexico; [email protected] 7 Department of Biological Sciences, Salem University, Salem, WV 26426, USA; [email protected] (S.G.S.); [email protected] (C.E.K.) 8 Sechenov First Moscow State Medical University (Sechenov University), St. Trubetskaya, 8, bld. 2, 119991 Moscow, Russia 9 Research Institute of Human Morphology, Russian Academy of Medical Science, Street Tsyurupa 3, 117418 Moscow, Russia 10 Institute of Physiologically Active Compounds, Russian Academy of Sciences, Chernogolovka, 142432 Moscow, Russia 11 GALLY International Research Institute, 7733 Louis Pasteur Drive, #330, San Antonio, TX 78229, USA * Correspondence: [email protected] or [email protected]; Tel.: +1-210-442-8625 or +1-440-263-7461 Received: 6 September 2020; Accepted: 8 November 2020; Published: 10 November 2020 Abstract: Ocular-involving paraneoplastic syndromes present a wide variety of clinical symptoms. Understanding the background pathophysiological and immunopathological factors can help make a more refined differential diagnosis consistent with the signs and symptoms presented by patients. There are two main pathophysiology arms: (1) autoimmune pathomechanism, which is presented with cancer-associated retinopathy (CAR), melanoma-associated retinopathy (MAR), cancer-associated cone dysfunction (CACD), paraneoplastic vitelliform maculopathy (PVM), and paraneoplastic optic neuritis (PON), and (2) ectopic peptides, which is often caused by tumor-expressed growth factors (T-exGF) and presented with bilateral diffuse uveal melanocytic proliferation (BDUMP). Meticulous systematic analysis of patient symptoms is a critical diagnostic step, complemented by multimodal imaging, which includes fundus photography, optical coherent tomography, fundus autofluorescence, fundus fluorescein angiography, electrophysiological examination, and sometimes fundus indocyjanin green angiography if prescribed by the clinician. Assessment of the presence of circulating antibodies is required for diagnosis. Antiretinal autoantibodies are highly associated with visual paraneoplastic syndromes and may guide diagnosis by classifying clinical manifestations in addition to monitoring treatment. Keywords: cancer-associated retinopathy; melanoma-associated retinopathy; cancer-associated cone dysfunction; paraneoplastic syndromes; vitelliform maculopathy; optic neuritis; uveal melanocytic proliferation; extracellular vesicles Biomedicines 2020, 8, 490; doi:10.3390/biomedicines8110490 www.mdpi.com/journal/biomedicines Biomedicines 2020, 8, 490 2 of 17 Biomedicines 2020, 8, x FOR PEER REVIEW 2 of 18 1. Introduction 1. Introduction Sawyer et al. reported the first report of systemic cancer causing visual deterioration and Sawyer et al. reported the first report of systemic cancer causing visual deterioration and retinal retinalchanges changes in 1976. in 1976.This opened This opened a new era a new of research era of researchinto ocular into paraneoplastic ocular paraneoplastic syndromes syndromes (OPNS). (OPNS).Surprisingly, Surprisingly, strict diagnostic strict diagnostic criteria remain criteria to remain be developed. to be developed. The reason The is perhaps reason isthe perhaps various the variouspresentations presentations of OPNS, of OPNS, such as such paraneoplastic as paraneoplastic retinopathy, retinopathy, paraneoplastic paraneoplastic optic neuropathy, optic neuropathy, and andparaneoplastic paraneoplastic tonic tonic pupils. pupils. However, However, the the majority majority of ofParaneoplastic Paraneoplastic Syndrome Syndrome (PNS) (PNS) occur occur when when immune-mediatedimmune-mediated cross-reactivity cross-reactivity involving involving tumor tumor antigens antigens causes causes collateral collateral damage damage to to normal normal host tissues.host tissues. Alternatively, Alternatively, there are ther PNSe are that PNS appear that to appear be caused to be by caus theed ectopic by the production ectopic production of hormones of or growthhormones factors or thatgrowth act atfactors a great that distance act at froma great their distance production from sitetheir (Figure production1)[ 1]. site Understanding (Figure 1) [1]. this mainUnderstanding division contributes this main to division a better contributes understanding to a better of OPNS understanding pathophysiology. of OPNS pathophysiology. FigureFigure 1. 1. TheThe pathophysiologypathophysiology of ocular paraneop paraneoplasticlastic syndromes syndromes (OPNS). (OPNS). Autoimmune Autoimmune pathomechanismpathomechanism is is presented presented withwith cancer-associatedcancer-associated retinopathy (CAR), (CAR), melanoma-associated melanoma-associated retinopathyretinopathy (MAR), (MAR), cancer-associatedcancer-associated conecone dysfunctiondysfunction (CACD), (CACD), paraneoplastic paraneoplastic vitelliform vitelliform maculopathymaculopathy PVM),PVM), andand paraneoplasticparaneoplastic opticoptic neuritis (PON). (PON). Ectopic Ectopic peptides, peptides, caused caused by by tumor-expressedtumor-expressed growth growth factors factors (T-exGF),(T-exGF), areare presentedpresented with with bilateral bilateral diffuse diffuse uveal uveal melanocytic melanocytic proliferation (BDUMP) and polyneuropathy, organomegaly, endocrinopathy, monoclonal proliferation (BDUMP) and polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, gammopathy, and skin changes syndrome (POEMS). and skin changes syndrome (POEMS). TheThe overall overall incidence incidence of of PNS PNS isis estimatedestimated atat aboutabout 10% of of neoplastic neoplastic patients. patients. Darnell Darnell et etal., al., similar to De Salvo et al., estimated the incidence of OPNS and neurologic paraneoplastic syndromes similar to De Salvo et al., estimated the incidence of OPNS and neurologic paraneoplastic syndromes to be even lower at 0.01% of cancer patients [2,3]. to be even lower at 0.01% of cancer patients [2,3]. The aim of this paper is to summarize the clinical symptoms and signs associated with different The aim of this paper is to summarize the clinical symptoms and signs associated with different OPNS. Our database search strategy is discussed in the attached file (Supplementary Materials). OPNS. Our database search strategy is discussed in the attached file (Supplementary Materials). After After removing duplicated studies, we selected 312 published reports for our analysis. We narrowed removing duplicated studies, we selected 312 published reports for our analysis. We narrowed our our review to publications in the past six years that address clinical evaluation and diagnosis. review to publications in the past six years that address clinical evaluation and diagnosis. 2. Clinical Evaluation 2. Clinical Evaluation Tables 1 and 2 provide a summary of clinical presentations that cover the main types of paraneoplasticTables1 and retinopa2 providethies a and summary neuropathies. of clinical presentations that cover the main types of paraneoplasticClinicians retinopathies must take into and account neuropathies. the fact that misdiagnosis potential is increased with other ophthalmologicalClinicians must changes, take into such account as theage-related fact that misdiagnosismacular degeneration, potential ispigment increased epithelium with other ophthalmologicaldetachment, vitelliform changes, maculopathy, such as age-related retinitis macular pigmentosa, degeneration, stationary pigment night blindness, epithelium intraocular detachment, vitelliforminflammation, maculopathy, glaucomatous retinitis optic pigmentosa, nerve atrophy, stationary or typical night optic blindness, neuritis. intraocular inflammation, glaucomatousTable 3 opticsummarizes nerve atrophy,underlying or typicalneoplasm, optic circulating neuritis. antibodies or growth factors, and target cellsTable within3 summarizes the visual system. underlying neoplasm, circulating antibodies or growth factors, and target cells within the visual system. Biomedicines 2020, 8, 490 3 of 17 Table 1. Summary of clinical features in different types of paraneoplastic retinopathies based on the included articles. Clinical Features CAR CACD PVM MAR BDUMP Acute, sudden (few days Acute or subacute (few Acute (few weeks to Acute, sudden Onset Subacute to several months) weeks to several years) months), may be sudden (several months) Bilateral with asymmetric Often Bilateral with asymmetric Bilateral with Ocular symmetry Bilateral presentation symmetric presentation asymmetric presentation Photosensitivity +++ +++ − − − Photopsias +++ + +++ − − Glare +++ prolonged
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