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Melanoma-associated retinopathy with anti-TRPM1 autoantibodies showing concomitant Off-bipolar cell dysfunction

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Abstract

Background

To report the clinical features of a patient with melanoma-associated retinopathy (MAR) with anti-transient receptor potential cation channel, subfamily M, member 1 (TRPM1) autoantibodies showing concomitant Off-bipolar cell dysfunction.

Methods

We evaluated a patient with a past history of scalp melanoma presented with sudden-onset shimmering photopsia in both eyes. MAR was confirmed with complete ophthalmic examinations, electronegative electroretinogram (ERG), and the presence of anti-TRPM1 autoantibodies by Western blot analysis. S-cone ERG and photopic On–Off ERG were studied in this patient as well.

Results

The patient's best-corrected visual acuity was 6/30 in the right eye and 6/8.6 in the left eye. Fundus and OCT findings were unremarkable. Visual field test showed severe constriction in both eyes. His full-field ERG was electronegative. S-cone ERG recorded preservation of L/M-cone-mediated response and undetectable S-cone-mediated response. Photopic On–Off ERG disclosed attenuated On- and Off-response. Western blot analysis confirmed immunoreactivity of the patient’s serum to a 30 kDa TRPM1 recombinant protein. Whole-body positron emission tomography scan detected lymph node metastases in the neck.

Conclusions

Anti-TRPM1 autoantibody-positive MAR varies greatly in its presentation and clinical course. We present a case of anti-TRPM1 autoantibody-positive MAR with atypical feature of Off-bipolar cell involvement. A complete electroretinographic study together with identification of the pathogenic antiretinal autoantibodies may help better understand and subclassify the disease in the future.

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Funding

This study is supported by Taipei Veterans General Hospital Grant VGH (V111C-099) and Ministry of Science and Technology of Taiwan Grant (MOST 110-2314-B-075-054-MY3).

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Authors and Affiliations

  1. Department of Ophthalmology, Taipei Veterans General Hospital, 201 Sec. 2, Shih-Pai Rd., Taipei, 11217, Taiwan

    Wei-Che Hung, Hui-Chen Cheng & An-Guor Wang

  2. Department of Ophthalmology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan

    Hui-Chen Cheng & An-Guor Wang

  3. Program in Molecular Medicine, College of Life Sciences, National Yang Ming Chiao Tung University, Taipei, Taiwan

    Hui-Chen Cheng

  4. Department of Life Sciences and Institute of Genome Sciences, College of Life Sciences, National Yang Ming Chiao Tung University, Taipei, Taiwan

    Hui-Chen Cheng

  5. Brain Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan

    Hui-Chen Cheng

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  1. Wei-Che Hung
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Correspondence to An-Guor Wang.

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Hung, WC., Cheng, HC. & Wang, AG. Melanoma-associated retinopathy with anti-TRPM1 autoantibodies showing concomitant Off-bipolar cell dysfunction. Doc Ophthalmol 145, 263–270 (2022). https://doi.org/10.1007/s10633-022-09901-y

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  • DOI: https://doi.org/10.1007/s10633-022-09901-y

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