The photoreceptor cell-specific nuclear receptor is an autoantigen of paraneoplastic retinopathy

Journal of Neuro-Ophthalmology

Volumn 21, Issue 3, 2001, Pages 168-172

  Eichen, Joseph G ^a   Dalmau, Josep ^a   Demopoulos, Alexis ^a,b   Wade, Deborly ^a   Posner, Jerome B ^a,b   Rosenfeld, Myrna R ^a  

^a UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^b MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

Author keywords

Antibodies; Cancer; Paraneoplastic; Photoreceptor cell specific nuclear receptor; Retinopathy

Indexed keywords

EID: 85012923853     PISSN: 10708022     EISSN: 15365166     Source Type: Journal    
DOI: 10.1097/00041327-200109000-00003     Document Type: Article

References (45)

1. Sawyer RA, Selhorst JB, Zimmerman LE, et al. Blindness caused by photoreceptor degeneration as a remote effect of cancer. Am J Ophthalmol 1976; 81: 606-13.
2. Luiz JE, Lee AG, Keltner JL, et al. Paraneoplastic optic neuropathy and autoantibody production in small-cell carcinoma of the lung. J Neuroophthalmol 1998; 18: 178-81.
3. Thirkill CE, Fitzgerald P, Sergott RC, et al. Cancer-associated retinopathy (CAR syndrome) with antibodies reacting with retinal, optic-nerve, and cancer cells. N Engl J Med 1989; 321: 1589-94.
4. Jacobson DM. Paraneoplastic disease of neuro-ophthalmologic interest. In: Miller NR, Newman NJ, eds. Walsh & Hoyt Clinical Neuro-ophthalmology. Baltimore: William & Wilkins, 1998: 2497-51.
5. Boeck K, Hofmann S, Klopfer M, et al. Melanoma-associated paraneoplastic retinopathy: case report and review of the literature. Br J Dermatol 1997; 137: 457-60.
6. Keltner JL, Roth AM, Chang RS. Photoreceptor degeneration. Possible autoimmune disorder. Arch Ophthalmol 1983; 101: 564-9.
7. Keltner JL, Thirkill CE. Cancer-associated retinopathy vs recoverin-associated retinopathy. Am J Ophthalmol 1998; 126: 296-302.
8. Thirkill CE, Tait RC, Tyler NK, et al. The cancer-associated retinopathy antigen is a recoverin-like protein. Invest Ophthalmol Vis Sci 1992; 33: 2768-72.
9. Kikuchi T, Arai J, Shibuki H, et al. Tubby-like protein 1 as an autoantigen in cancer-associated retinopathy. J Neuroimmunol 2000; 103: 26-33.
10. Kobayashi M, Takezawa S, Hara K, et al. Identification of a photoreceptor cell-specific nuclear receptor. Proc Natl Acad Sci U S A 1999; 96: 4814-9.
11. Haider NB, Jacobson SG, Cideciyan AV, et al. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet 2000; 24: 127-31.
12. Akhmedov NB, Piriev NI, Chang B, et al. A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse. Proc Natl Acad Sci U S A 2000; 97: 5551-6.
13. Dalmau J, Graus F, Rosenblum MK, et al. Anti-Hu-associated paraneoplastic encephalomyelitis/sensory neuronopathy. A clinical study of 71 patients. Medicine 1992; 71: 59-72.
14. Peterson K, Rosenblum MK, Kotanides H, et al. Paraneoplastic cerebellar degeneration. I. A clinical analysis of 55 anti-Yo antibody-positive patients. Neurology 1992; 42: 1931-7.
15. Voltz R, Gultekin SH, Rosenfeld MR, et al. A serologic marker of paraneoplastic limbic and brain-stem encephalitis in patients with testicular cancer. N Engl J Med 1999; 340: 1788-95.
16. Dalmau J, Gultekin SH, Voltz R, et al. Ma1, a novel neuronal and testis specific protein, is recognized by the serum of patients with paraneoplastic neurologic disorders. Brain 1998; 122: 27-39.
17. Dalmau J, Furneaux HM, Gralla RJ, et al. Detection of the anti-Hu antibody in the serum of patients with small cell lung cancer-a quantitative western blot analysis. Ann Neurol 1990; 27: 544-52.
18. Dalmau J, Furneaux HM, Cordon-Cardo C, et al. The expression of the Hu (paraneoplastic encephalomyelitis/sensory neuronopathy) antigen in human normal and tumor tissues. Am J Pathol 1992; 141: 881-6.
19. Furneaux HM, Rosenblum MK, Dalmau J, et al. Selective expression of Purkinje-cell antigens in tumor tissue from patients with paraneoplastic cerebellar degeneration. N Engl J Med 1990; 322: 1844-51.
20. Buchanan F, Crawford A, Strobeck C, et al. Evolutionary applications of MIRs and SINEs. Anim Genet 1999; 30: 47-50.
21. Thirkill CE, Roth AM, Keltner JL. Cancer-associated retinopathy. Arch Ophthalmol 1987; 105: 372-5.
22. Jacobson DM, Thirkill CE, Tipping SJ. A clinical triad to diagnose paraneoplastic retinopathy. Ann Neurol 1990; 28: 162-7.
23. Klingele TG, Burde RM, Rappazzo JA, et al. Paraneoplastic retinopathy. J Clin Neuroophthalmol 1984; 4: 239-45.
24. Crofts JW, Bachynski BN, Odel JG. Visual paraneoplastic syndrome associated with undifferentiated endometrial carcinoma. Can J Ophthalmol 1988; 23: 128-32.
25. Eltabbakh GH, Hoogerland DL, Kay MC. Paraneoplastic retinopathy associated with uterine sarcoma. Gynecol Oncol 1995; 58: 120-3.
26. Whitcup SM, Vistica BP, Milam AH, et al. Recoverin-associated retinopathy: a clinically and immunologically distinctive disease. Am J Ophthalmol 1998; 126: 230-7.
27. Heckenlively JR, Fawzi AA, Oversier J, et al. Autoimmune retinopathy: patients with antirecoverin immunoreactivity and panretinal degeneration. Arch Ophthalmol 2000; 118: 1525-33.
28. Adamus G, Aptsiauri N, Guy J, et al. The occurrence of serum autoantibodies against enolase in cancer-associated retinopathy. Clin Immunol Immunopathol 1996; 78: 120-9.
29. Kornguth SE, Klein R, Appen R, et al. Occurrence of anti-retinal ganglion cell antibodies in patients with small cell carcinoma of the lung. Cancer 1982; 50: 1289-93.
30. Gitlits VM, Sentry JW, Matthew ML, et al. Autoantibodies to evolutionarily conserved epitopes of enolase in a patient with discoid lupus erythematosus. Immunology 1997; 92: 362-8.
31. Milam AH, Saari JC, Jacobson SG, et al. Autoantibodies against retinal bipolar cells in cutaneous melanoma-associated retinopathy. Invest Ophthalmol Vis Sci 1993; 34: 91-100.
32. Potter MJ, Thirkill CE, Dam OM, et al. Clinical and immunocytochemical findings in a case of melanoma-associated retinopathy. Ophthalmology 1999; 106: 2121-5.
33. Green S, Chambon P. Nuclear receptors enhance our understanding of transcription regulation. Trends Genet 1988; 4: 309-14.
34. Evans RM. The steroid and thyroid hormone receptor superfamily. Science 1988; 240: 889-95.
35. Hollemann T, Bellefroid E, Pieler T. The Xenopus homologue of the Drosophila gene tailless has a function in early eye development. Development 1998; 125: 2425-32.
36. Chen F, Figueroa DJ, Marmorstein AD, et al. Retina-specific nuclear receptor: a potential regulator of cellular retinaldehyde-binding protein expressed in retinal pigment epithelium and Muller glial cells. Proc Natl Acad Sci U S A 1999; 96: 15149-54.
37. Freund CL, Gregory-Evans CY, Furukawa T, et al. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell 1997; 91: 543-53.
38. Martinez JA, Barnstable CJ. Erx, a novel retina-specific homeodomain transcription factor, can interact with Ret 1/PCEI sites. Biochem Biophys Res Commun 1998; 250: 175-80.
39. Swain PK, Chen S, Wang QL, et al. Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. Neuron 1997; 19: 1329-36.
40. Jacobson SG, Marmor MF, Kemp CM, et al. SWS (blue) cone hypersensitivity in a newly identified retinal degeneration. Invest Ophthalmol Vis Sci 1990; 31: 827-38.
41. Marmor MF, Jacobson SG, Foerster MH, et al. Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity. Am J Ophthalmol 1990; 110: 124-34.
42. Leys K, Lang B, Johnston I, et al. Calcium channel autoantibodies in the Lambert-Eaton myasthenic syndrome. Ann Neurol 1991; 29: 307-14.
43. Vincent A, Newsom-Davis J. Acetylcholine receptor antibody as a diagnostic test for myasthenia gravis: results in 153 validated cases and 2967 diagnostic assays. J Neurol Neurosurg Psychiatry 1985; 48: 1246-52.
44. Graus F, Rowe G, Fueyo J, et al. The neuronal nuclear antigen recognized by the human anti-Ri autoantibody is expressed in central but not peripheral nervous system neurons. Neurosci Lett 1993; 150: 212-4.
45. Polans AS, Witkowska D, Haley TL, et al. Recoverin, a photoreceptor-specific calcium-binding protein, is expressed by the tumor of a patient with cancer-associated retinopathy. Proc Natl Acad Sci U S A 1995; 92: 9176-80.