Unilateral cancer-associated retinopathy: diagnosis, serology and treatment

Roels, Dimitri; Ueno, Shinji; Talianu, Cornelia C.D.; Draganova, Dafina; Kondo, Mineo; Leroy, Bart

doi:10.1007/s10633-017-9605-y

Cited by 27 publications

(29 citation statements)

References 17 publications

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“…Despite the fact that anti-TRPM1 autoantibodies have been mostly reported in cases of metastatic melanoma, other groups have also reported patients with carcinoma. Interestingly those also revealed a MAR-like ON-bipolar cell dysfunction on ERG and anti-TRPM1 autoantibodies documented by western blot and immunofluorescence on monkey retina tissue [10,44]. Consequently, as patients with carcinoma can present an ON-bipolar cell dysfunction, a better classification of these two types of paraneoplastic syndromes would be paraneoplastic with photoreceptor defect (usually addressed as CAR) and paraneoplastic with ON-bipolar defect (usually addressed as MAR) [47].…”

Section: Introductionmentioning

confidence: 99%

“…However, no skin phenotype has been documented in TRPM1-related cCSNB [21][22][23]. Recently, autoantibodies against TRPM1 were identified in patients with MAR, as well as in a few patients with other neoplasms [10,11,[35][36][37][38][39][40][41][42][43][44][45][46]. Despite the fact that anti-TRPM1 autoantibodies have been mostly reported in cases of metastatic melanoma, other groups have also reported patients with carcinoma.…”

Section: Introductionmentioning

confidence: 99%

“…Whether these anti-TRPM1 antibodies cause other phenotypes such as thinning of the choroid [41] or retinal degeneration is a matter of debate [46,49]. In addition, the ocular phenotype is variable depending on the persistence or not of anti-TRPM1 autoantibodies [44,45]. Indeed, Ueno and colleagues reported clearance of autoantibodies following treatment in a patient with paraneoplastic retinopathy and ON-bipolar cell dysfunction whose ERG responses did not recover while other patients with MAR or CAR regained normal ERG responses after clearance of anti-TRPM1 antibodies [45] or following rituximab treatment [44], respectively.…”

Section: Introductionmentioning

confidence: 99%

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Identification and characterization of novel TRPM1 autoantibodies from serum of patients with melanoma-associated retinopathy

et al. 2020

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Melanoma-associated retinopathy (MAR) is a rare paraneoplastic retinal disorder usually occurring in the context of metastatic melanoma. Patients present with night blindness, photopsias and a constriction of the visual field. MAR is an auto-immune disorder characterized by the production of autoantibodies targeting retinal proteins, especially autoantibodies reacting to the cation channel TRPM1 produced in melanocytes and ON-bipolar cells. TRPM1 has at least three different isoforms which vary in the N-terminal region of the protein. In this study, we report the case of three new MAR patients presenting different anti-TRPM1 autoantibodies reacting to the three isoforms of TRPM1 with variable binding affinity. Two sera recognized all isoforms of TRPM1, while one recognized only the two longest isoforms upon immunolocalization studies on overexpressing cells. Similarly, the former two sera reacted with all TRPM1 isoforms on western blot, but an immunoprecipitation enrichment step was necessary to detect all isoforms with the latter serum. In contrast, all sera labelled ON-bipolar cells on Tprm1 +/+ but not on Trpm1-/mouse retina as shown by coimmunolocalization. This confirms that the MAR sera specifically detect TRPM1. Most likely, the anti-TRPM1 autoantibodies of different patients vary in affinity and concentration. In addition, the binding of autoantibodies to TRPM1 may be conformation-dependent, with epitopes being inaccessible in some constructs (truncated polypeptides versus full-length TRPM1) or applications (western blotting versus immunohistochemistry).

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Identification and characterization of novel TRPM1 autoantibodies from serum of patients with melanoma-associated retinopathy

et al. 2020

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“…The authors also showed that the subgroup most responsive to immunosuppression treatment was the paraneoplastic AIR group and the least responsive was the npAIR group [13]. A case of unilateral TRPM1-positive CAR associated with adenocarcinoma of the right ovary has been reported [14]. The patient was treated with rituximab, monoclonal antibody, and corticosteroids which resulted in a visual acuity of 20/20, symptomatic improvements, and normalization of the ERGs.…”

Section: Discussionmentioning

confidence: 98%

Non-paraneoplastic autoimmune retinopathy that developed in fellow eye 10 years after onset in first eye: a case report

et al. 2020

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Background: Evidence-based criteria for the treatment of autoimmune retinopathy (AIR) have not been established. The pathology and clinical features of each antibody causing AIR, and its long-term course are still undetermined. We report our findings in a case of non-paraneoplastic AIR (npAIR) that developed in the fellow eye 10 years after the onset in the first eye. Case presentation: Our patient had photophobia in both eyes and a rapidly progressing visual field defect in his right eye at the initial examination. He was diagnosed with non-paraneoplastic AIR based on the clinical findings and immunoblot analyses for anti-retinal antibodies, and he was treated with steroids. Ten years later, a visual field defect developed in the fellow eye, and a diagnosis of npAIR was made. Immunoblot analyses were positive for anti-αenolase antibodies. He was treated with steroids, immunosuppressants, and plasma exchange. However, the response to the treatment was poor and both eyes eventually became blind. Conclusions: As best we know, this is the first case report of npAIR that developed in the fellow eye over 10 years after the development in the first eye. Long-term follow-up and a search for tumor lesions are necessary in cases of npAIR. Further understanding of the long-term course of AIR can contribute to an understanding of the pathology and treatment of npAIR.

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“…99 Patients present with scotomas, positive visual scintillations (photopsia), and photophobia. The disease is most commonly bilateral but can be asymmetrical, and rarely unilateral 100 Patients with a history of migraine may be mistakenly diagnosed with persistent migraine aura. Initial funduscopic examination may be normal.…”

Section: Autoimmune Retinopathymentioning

confidence: 99%

Migraine Aura: Pathophysiology, Mimics, and Treatment Options

et al. 2019

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Recent insights into the clinical presentation and pathophysiology of migraine aura have paved the way for new treatments for this common but frequently debilitating condition. Marked efflux of cellular potassium and glutamate contributes to the cortical spreading depression that forms the electrophysiological basis of migraine aura phenomena. Secondary vascular perturbations also contribute to the various symptoms of a migraine attack. Calcitonin gene-related peptide (CGRP) plays a key role in many of these steps, and a growing class of CGRP-antagonists have emerged as a novel, efficacious preventative therapy. It is still not fully understood why a preponderance of migraine aura symptoms is visual, and this issue is an active area of research. In addition, the pathophysiological changes responsible for visual snow syndrome are under investigation. Before diagnosing a patient with migraine aura, it is important to consider the differential diagnosis of transient visual phenomena, with attention to clinical features that may suggest conditions such as retinal disorders, transient ischemic attack, or occipital epilepsy.

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Unilateral cancer-associated retinopathy: diagnosis, serology and treatment

Abstract: Although rare, unilateral CAR does occur and in cases with high clinical suspicion an oncological work-up is mandatory. Aggressive cancer treatment combined with steroids and rituximab can lead to normalization of the clinical and ERG phenotype, with clearing of antiretinal antibodies.

Cited by 27 publications

References 17 publications

Identification and characterization of novel TRPM1 autoantibodies from serum of patients with melanoma-associated retinopathy

Identification and characterization of novel TRPM1 autoantibodies from serum of patients with melanoma-associated retinopathy

Non-paraneoplastic autoimmune retinopathy that developed in fellow eye 10 years after onset in first eye: a case report

Migraine Aura: Pathophysiology, Mimics, and Treatment Options

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