Autoantibodies to transient receptor potential cation channel, subfamily M, member 1 in a Japanese patient with melanoma-associated retinopathy

详细信息    查看全文

• 作者：Yukiko Morita (1)
  Kazuhiro Kimura (1)
  Youichiro Fujitsu (1)
  Atsushi Enomoto (2)
  Shinji Ueno (3)
  Mineo Kondo (4)
  Koh-Hei Sonoda (1)
  
• 关键词：Melanoma ; associated retinopathy ; Electroretinogram (ERG) ; Transient receptor potential cation channel ; subfamily M ; member 1 (TRPM1) ; Paraneoplastic retinopathy
• 刊名：Japanese Journal of Ophthalmology
• 出版年：2014
• 出版时间：March 2014
• 年：2014
• 卷：58
• 期：2
• 页码：166-171
• 全文大小：1,523 KB
• 参考文献：1. Berson EL, Lessell S. Paraneoplastic night blindness with malignant melanoma. Am J Ophthalmol. 1988;106:307-1. CrossRef
  2. Milam AH, Saari JC, Jacobson SG, Lubinski WP, Feun LG, Alexander KR. Autoantibodies against retinal bipolar cells in cutaneous melanoma-associated retinopathy. Invest Ophthalmol Vis Sci. 1993;34:91-00.
  3. Potter MJ, Thirkill CE, Dam OM, Lee AS, Milam AH. Clinical and immunocytochemical findings in a case of melanoma-associated retinopathy. Ophthalmology. 1999;106:2121-. CrossRef
  4. Lei B, Bush RA, Milam AH, Sieving PA. Human melanoma-associated retinopathy (MAR) antibodies alter the retinal ON response of the monkey ERG in vivo. Invest Ophthalmol Vis Sci. 2000;41:262-.
  5. Keltner JL, Thirkill CE, Yip PT. Clinical and immunologic characteristics of melanoma-associated retinopathy syndrome: eleven new cases and a review of 51 previously published cases. J Neuroophthalmol. 2001;21:173-7. CrossRef
  6. Alexander KR, Barnes CS, Fishman GA, Milam AH. Nature of the cone ON pathway dysfunction in melanoma-associated retinopathy. Invest Ophthalmol Vis Sci. 2002;43:1189-7.
  7. Chan JW. Paraneoplastic retinopathies and optic neuropathies. Surv Ophthalmol. 2003;48:12-8. CrossRef
  8. Adamus G. Autoantibody targets and their cancer relationship in the pathogenicity of paraneoplastic retinopathy. Autoimmun Rev. 2009;8:410-. CrossRef
  9. Potter MJ, Adamus G, Szabo SM, Lee R, Mohaseb K, Behn D. Autoantibodies to transducin in a patient with melanoma-associated retinopathy. Am J Ophthalmol. 2002;134:128-0. CrossRef
  10. Hartmann TB, Bazhin AV, Schadendorf D, Eichmuller SB. SEREX identification of new tumor antigens linked to melanoma-associated retinopathy. Int J Cancer. 2005;114:88-3. CrossRef
  11. Lu Y, Jia L, He S, Hurley MC, Leys MJ, Jayasundera T, et al. Melanoma-associated retinopathy: a paraneoplastic autoimmune complication. Arch Ophthalmol. 2009;127:1572-0. CrossRef
  12. Bazhin AV, Dalke C, Willner N, Abschütz O, Wildberger HGH, Philippov PP, et al. Cancer-retina antigens as potential paraneoplastic antigens in melanoma-associated retinopathy. Int J Cancer. 2009;124:140-. CrossRef
  13. Dhingra A, Fina ME, Neinstein A, Ramsey DJ, Xu Y, Fishman GA, et al. Autoantibodies in melanoma-associated retinopathy target TRPM1 cation channels of retinal ON bipolar cells. J Neurosci. 2011;31:3962-. CrossRef
  14. Kondo M, Sanuki R, Ueno S, Nishizawa Y, Hashimoto N, Ohguro H, et al. Identification of autoantibodies against TRPM1 in patients with paraneoplastic retinopathy associated with ON bipolar cell dysfunction. PLoS One. 2011;6:e19911. CrossRef
  15. Morgans CW, Zhang J, Jeffrey BG, Nelson SM, Burke NS, Duvoisin RM, et al. TRPM1 is required for the depolarizing light response in retinal ON bipolar cells. Proc Natl Acad Sci USA. 2009;106:19174-. CrossRef
  16. Koike C, Obara T, Uriu Y, Numata T, Sanuki R, Miyata K, et al. TRPM1 is a component of the retinal ON bipolar cell transduction channel in the mGluR6 cascade. Proc Natl Acad Sci USA. 2010;107:332-. CrossRef
  17. Koike C, Numata T, Ueda H, Mori Y, Furukawa T. TRPM1: a vertebrate TRP channel responsible for retinal ON bipolar function. Cell Calcium. 2010;48:95-01. CrossRef
  18. Loduca AL, Zhang C, Zelkha R, Shahidi M. Thickness mapping of retinal layers by spectral-domain optical coherence tomography. Am J Ophthalmol. 2010;150:849-5. CrossRef
  19. Klooster J, Blokker J, Ten Brink JB, Unmehopa U, Fluiter K, Bergen AA. Ultrastructural localization and expression of TRPM1 in the human retina. Invest Ophthalmol Vis Sci. 2011;52:8356-2. CrossRef
  20. Li Z, Sergouniotis PI, Michaelides M, Mackay DS, Wright GA, Devery S, et al. Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans. Am J Hum Genet. 2009;85:711-. CrossRef
  21. van Genderen MM, Bijveld MM, Claassen YB, Florijn RJ, Pearring JN, Meire FM, et al. Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. Am J Hum Genet. 2009;85:730-. CrossRef
  22. Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Sa?d S, et al. TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2009;85:720-. CrossRef
  23. Nakamura M, Sanuki R, Yasuma TR, Onishi A, Nishiguchi KM, Koike C, et al. TRPM1 mutations are associated with the complete form of congenital stationary night blindness. Mol Vis. 2010;16:425-7.
  
• 作者单位：Yukiko Morita (1)
  Kazuhiro Kimura (1)
  Youichiro Fujitsu (1)
  Atsushi Enomoto (2)
  Shinji Ueno (3)
  Mineo Kondo (4)
  Koh-Hei Sonoda (1)
  
  1. Department of Ophthalmology, Yamaguchi University Graduate School of Medicine, 1-1-1 Minami-Kogushi, Ube, Yamaguchi, 755-8505, Japan
  2. Department of Pathology, Nagoya University Graduate School of Medicine, Nagoya, Japan
  3. Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan
  4. Department of Ophthalmology, Mie University Graduate School of Medicine, Tsu, Japan
  
• ISSN：1613-2246

文摘

Purpose To report a case of melanoma-associated retinopathy (MAR) in a Japanese patient found to have autoantibodies to transient receptor potential cation channel, subfamily M, member 1 (TRPM1). Case An 82-year-old man presented with blurred vision OS as well as night blindness and photopsia OU. Fundus photography, fluorescein angiography, and spectral domain-optical coherence tomography findings were essentially normal. Goldmann perimetry revealed a relative central scotoma, including the blind spot in the right eye, as well as a relative scotoma around a blind spot OS. The full-field scotopic electroretinograms showed a “negative-type-pattern OU, suggestive of extensive bipolar cell dysfunction. Systemic examination revealed that the patient had malignant melanoma of the anus with lung metastasis. Autoantibodies to TRPM1 were detected in the serum of the patient by immunoblot analysis. Vitreous opacity developed during follow-up. The visual symptoms and vitreous opacity of the patient were markedly improved after oral prednisolone therapy. The patient died as a result of widespread metastasis of the melanoma at 11?months after his first visit. Conclusion The present case is the first reported instance of MAR positive for autoantibodies to TRPM1 in an Asian patient.