IJCRR - 5(17), September, 2013
Pages: 16-23
AUTOIMMUNE RETINOPATHY-A REVIEW
Author: Devendra Pratap Singh Rajput, Priti Singh, S. B. Gupta, Samarth Shukla, Sourya Acharya, Rashmi Kumar
Category: Healthcare
[Download PDF]
Abstract:
Autoimmune retinopathy is a rare autoimmune disease that primarily affects retinal photoreceptor function. It mainly presents in the fifth and sixth decades. Three main forms of autoimmune retinopathy (AIR) have been identified: cancer-associated retinopathy (CAR), melanoma-associated retinopathy (MAR), and non-neoplastic autoimmune retinopathy (npAIR). In this chapter, the term AIR will be used to encompass all three disorders. Patients typically present with a sudden onset of photopsia, rapid visual loss, and abnormal electroretinograms (ERGs). Different types of AIR present with similar clinical features and it requires extensive work up to rule out other differential diagnosis. Pt presents with poor visual prognosis that may be due to delayed diagnosis and delay in initiation of treatment. Different treatment modalities have been tried, including systemic immunosuppression with steroid and steroid-sparing agents, intravenous immunoglobulin, and plasmapheresis, with variable results. Different types of antiretinal antibodies have been found in these patients with autoimmune retinopathy such as antibodies to recoverin, α-enolase and transducin-α, but seronegative disease is also common. A lot of research work has been done in this field to understand the pathophysiological mechanisms that is responsible for autoimmune retinopathy, but than also understanding about this rare disorder is limited. In this review we have tried to summarize the pathogenic mechanism, clinical features, investigation, differential diagnosis, treatment and prognosis of autoimmune retinopathy.
Keywords: Autoimmunity, Retinopathy, Autoantibody
Citation:
Devendra Pratap Singh Rajput, Priti Singh, S. B. Gupta, Samarth Shukla, Sourya Acharya, Rashmi Kumar. AUTOIMMUNE RETINOPATHY-A REVIEW International Journal of Current Research and Review. 5(17), September, 16-23
References:
- Ohguro H, Yokoi Y, Ohguro I, et al. Clinical and immunologic aspects of cancer-associated retinopathy. Am J Ophthalmol. 2004; 137(6):1117–1119. [PubMed: 15183799]
- Weleber RG, Watzke RC, Shults WT, et al. Clinical and electrophysiologic characterization of paraneoplastic and autoimmune retinopathies associated with antienolase antibodies. Am J Ophthalmol. 2005; 139(5):780–794. [PubMed: 15860281]
- Whitcup SM, Vistica BP, Milam AH, Nussenblatt RB, Gery I. Recoverin-associated retinopathy: a clinically and immunologically distinctive disease. Am J Ophthalmol. 1998; 126(2):230–237. [PubMed: 9727517]
- Sawyer RA, Selhorst JB, Zimmerman LE, Hoyt WF. Blindnesscaused by photoreceptor degeneration as a remote effect of cancer. Am J Ophthalmol 1976;81:606–613
- Klingele TG, Burde RM, Rappazzo JA, Isserman MJ, BurgessD, Kantor O. Paraneoplastic retinopathy. J Clin Neuroophthalmol 1984;4:239 –245.
- Berson EL, Lessell S. Paraneoplastic night blindness withmalignant melanoma. Am J Ophthalmol 1988;106:307–311.
- Braithwaite T, Vugler A, Tufail A. Autoimmune retinopathy. . Ophthalmologica. 2012;228(3):131-42.
- Thirkill CE, Roth AM, Keltner JL. Cancer-associated retinopathy. Arch Ophthalmol. Mar 1987;105(3):372-5. [Medline].
- Adamus G, Karren L. Autoimmunity against carbonic anhydrase II affects retinal cell functions in autoimmune retinopathy. J Autoimmun. Mar 2009;32(2):133-9. [Medline].
- Azin Abazari, Souha S. Allam, Grazyna Adamus, And Nicola G. Ghazi, Optical Coherence Tomography Findings in Autoimmune Retinopathy, Am J Ophthalmol. 2012 April ; 153(4): 750–756.e1.
- Raj K Maturi, MD; Chief Editor: Hampton Roy Sr, MD, Cancer Associated and Related Autoimmune Retinopathies, emedicine.medscape.com/article/1227724.
- Ko AC, Hernández J, Brinton JP, Faidley EA, Mugge SA, Mets MB. Anti-?-enolase autoimmune retinopathy manifesting in early childhood. Arch Ophthalmol. Dec 2010;128(12):1590-5. [Medline].
- Adamus G. Autoantibody targets and their cancer relationship in the pathogenicity of paraneoplastic retinopathy. Autoimmun Rev. Mar 2009;8(5):410-4. [Medline].
- Heckenlively JR, Ferreyra HA. Autoimmune retinopathy: a review and summary, Semin Immunopathol. 2008 Apr;30(2):127-34.[article8]
- Khan N, Huang JJ, Foster CS. Cancer associated retinopathy (CAR): An autoimmune-mediated paraneoplastic Syndrome, Semin Ophthalmol. 2006 Jul-Sep;21(3):135-41.
- Ikawa M, Kuriyama M. Paraneoplastic retinopathy and optic neuropathy. Brain Nerve. 2010 Apr;62(4):371-6.
- Sobottka B, Schlote T, Besch D, Djelebova T, Wilhelm H, Zrenner E.et al. Carcinoma-associated retinopathy: a review with clinical examples. . Klin Monbl Augenheilkd. 2000 Jan;216(1):17-24.
- Ferreyra HA, Jayasundera T, Khan NW, He S, Lu Y, Heckenlively JR (2009) Management of autoimmune retinopathies with immunosuppression. Arch Ophthalmol 127:390–397.
- Nancy Huynh and Yevgeniy Shildkrot and Ann-Marie Lobo and Lucia Sobrin. Intravitreal triamcinolone for cancer-associated retinopathy refractory to systemic therapy. J Ophthal Inflamm Infect (2012) 2:169–171
- 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. Sep 2001;21(3):173-87. [Medline].
- Adamus G, Aptsiauri N, Guy J, Heckenlively J, Flannery J, Hargrave PA. The occurrence of serum autoantibodies against enolase in cancer-associated retinopathy. Clin Immunol Immunopathol. 1996; 78(2):120–129. [PubMed: 8625554].
- Gitlits VM, Toh BH, Sentry JW. Disease association, origin, and clinical relevance of autoantibodies to the glycolytic enzyme enolase. J Investig Med. 2001; 49(2):138–145.
- Adamus G, Amundson D, Seigel GM, Machnicki M. Anti-enolase alpha autoantibodies in cancerassociated retinopathy: epitope mapping and cytotoxicity on retinal cells. J Autoimmun. 1998; 11(6):671–677. [PubMed: 9878089].
- Grazyna Adamus*1,2, Gaoying Ren1 and Richard G Weleber2. Autoantibodies against retinal proteins in araneoplastic and autoimmune retinopathy. BMC Ophthalmology 2004, 4:5.
- Thirkill CE, FitzGerald P, Sergott RC, Roth AM, Tyler NK, Kaltner JL: Cancer-associated retinophaty (CAR syndrome) with antibodies reacting with retinal, optic-nerve, and cancer cells. New England Journal of Medicine 1989, 321:1589-1594.
- Murphy MA, Thirkill CE, Hart WM: Paraneoplastic retinopathy: a novel autoantibody reaction with small cell carcinoma. J Neuroophthalmol 1997, 17:77-83. .
- Ohguro H, Ogawa K, Nakagawa T: Recoverin and Hsc 70 are found as autoantigens in patients with cancer-associated retinopathy. Invest Ophthalmol Vis Sci 1999, 40:82-89. .
- Ohguro H, Ogawa K, Maeda T, Maeda A, Maruyama I: Cancer-associated retinopathy induced by both anti-recoverin and antihsc70 antibodies in vivo. Invest Ophthalmol Vis Sci 1999, 40:3160-3167. .
- Yoon YH, Cho EH, Sohn J, Thirkill CE: An unusual type of cancerassociated retinopathy in a patient with ovarian cancer. Korean J Ophthalmol 1999, 13:43-48. .
- Peek R, Dijkstra BG, Meek B, Kuijpers RW: Autoantibodies to photoreceptor membrane proteins and outer plexiform layer in patients with cancer-associated retinopathy. Clin ExpImmunol 2002, 128:498-503. .
- 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, 34:91-100.
- Keltner JL, Thirkill CE: The 22-kDa antigen in optic nerve and retinal diseases. J Neuroophthalmol 1999, 19:71-83.
- 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, 21:173-187.
- Sawyer RASelhorst JBZimmerman LEHoyt WF Blindness caused by photoreceptor degeneration as a remote effect of cancer. Am J Ophthalmol 1976;81 (5) 606- 613]
- Keltner JLRoth AMChang RS Photoreceptor degeneration: possible autoimmune disorder. Arch Ophthalmol 1983;101 (4) 564- 569]
- Thirkill CEFitzGerald PSergott RCRoth AMTyler NKKeltner JL Cancer-associated retinopathy (CAR syndrome) with antibodies reacting with retinal, optic-nerve, and cancer cells. N Engl J Med 1989;321 (23) 1589- 1594]
- Murphy MAThirkill CEHart WM Jr Paraneoplastic retinopathy: a novel autoantibody reaction associated with small-cell lung carcinoma. J 2Neuroophthalmol 1997;17 (2) 77- 83]
- Guy JAptsiauri N Treatment of paraneoplastic visual loss with intravenous immunoglobulin: report of 3 cases. Arch Ophthalmol 1999;117 (4) 471- 477]
- Espandar L, O'Brien S, Thirkill C, Lubecki LA, Esmaeli B. Successful treatment of cancer-associated retinopathy with alemtuzumab. J Neurooncol. Jul 2007;83(3):295-302.
- Ferreyra HA, Jayasundera T, Khan NW, He S, Lu Y, Heckenlively JR (2009) Management of autoimmune retinopathies with immunosuppression. Arch Ophthalmol 127:390–397
- Guy J, Aptsiauri N (1999) Treatment of paraneoplastic visual loss with intravenous immunoglobulin. Arch Ophthalmol 127:612–614
- Shildkrot Y, Sobrin L, Gragoudas ES (2011) Cancer-associated retinopathy: update on pathogenesis and therapy. Sem Ophthalmol 26:321–328
- Mahdi N, Faia LJ, Goodwin J, Nussenblatt RB, Sen HN (2010) A case of autoimmune retinopathy associated with thyroid carcinoma. Ocul Immunol Inflamm 18:322–32
- Nancy Huynh and Yevgeniy Shildkrot and Ann-Marie Lobo and Lucia Sobrin-J Ophthal Inflamm Infect (2012) 2:169–171
- Adamus G, Machnicki M, Elerding H, Sugden B, Blocker YS, Fox DA. Antibodies to recoverin induce apoptosis of photoreceptor and bipolar cells in vivo. J Autoimmun. 1998; 11(5):523–533. [PubMed: 9802939].
- Maeda T, Maeda A, Maruyama I, et al. Mechanisms of photoreceptor cell death in cancerassociated retinopathy. Invest Ophthalmol Vis Sci. 2001; 42(3):705–712. [PubMed: 11222531].
- Magrys A, Anekonda T, Ren G, Adamus G. The role of anti-alpha-enolase autoantibodies in pathogenicity of auto-immune-mediated retinopathy. J Clin Immunol. 2007; 27(2):181–192. [PubMed: 17235687].
- Ren G, Adamus G. Cellular targets of anti-alpha-enolase autoantibodies of patients with autoimmune retinopathy. J Autoimmun. 2004; 23(2):161–167. [PubMed: 15324934].
- Adamus G, Machnicki M, Seigel GM: Apoptotic retinal cell death induced by autoantibodies of cancer associated retinopathy. Invest Ophthalmol Vis Sci 1997, 38:283-291].
- Adamus G, Amundson D, Seigal GM, Machnicki M: Anti-enolase alpha autoantibodies in cancer-associated retinopathy: epitope mapping and cytotoxicity on retinal cells. J Autoimmun 1998, 11:671-677
- Maruyama I, Ohguro H, Ikeda Y: Retinal ganglion cells recognizedby serum autoantibody against gamma- enolase found in glaucoma patients. Invest Ophthalmol Vis Sci 2000, 41:1657-1665.
- Dr Kathryn L. Pepple, PhD, Dr Prithvi Mruthyunjaya OphthalmologyTimesEurope Volume 9, Issue 5.
- Kimberly E. Stepien, MD,* Dennis P. Han, MD, Jonathan Schell, MD, Pooja Godara, MD, Jungtae Rha, PhD, and Joseph Carroll, PhD. Trans Am Ophthalmol Soc. 2009 December; 107: 28–33.
|