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Review

The Genetics of Ethambutol-Induced Optic Neuropathy: A Narrative Review

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Pages 304-313 | Received 01 Mar 2022, Accepted 28 Jun 2022, Published online: 02 Aug 2022

References

  • Ramappa V, Aithal GP. Hepatotoxicity related to anti-tuberculosis drugs: mechanisms and management. J Clin Exp Hepatol. 2013;3(1):37. doi:10.1016/j.jceh.2012.12.001.
  • Sulis G, Roggi A, Matteelli A, Raviglione MC. Tuberculosis: epidemiology and control. Mediterr J Hematol Infect Dis. 2014;6(1):e2014070. doi:10.4084/mjhid.2014.070.
  • Manikandan S. Treating tuberculosis: time to introduce fixed-dose drug combinations. J Young Pharm JYP. 2012;4(4):199–200. doi:10.4103/0975-1483.104362.
  • World Health Organization, Stop TB Initiative (World Health Organization). Treatment of Tuberculosis: Guidelines. WHO Press: World Health Organization; 2010.
  • Chaudhuri. Recent changes in technical and operational guidelines for tuberculosis control programme in India - 2016: a paradigm shift in tuberculosis control. J Assoc Chest Physicians. 2017;5(1):1.
  • Gedik S, Azizler M, Akova YA, Atalay B, Caner H, Altinörs N. Ethambutol-Induced optic neuropathy in a patient with pituitary macroadenoma: case report. Adv Ther. 2003;20(6):319–323. doi:10.1007/BF02849797.
  • Wang MY, Sadun AA. Drug-Related mitochondrial optic neuropathies. J Neuroophthalmol. 2013;33(2):172–178. doi:10.1097/WNO.0b013e3182901969.
  • Oliveira C. Toxic-Metabolic and hereditary optic neuropathies. Contin Lifelong Learn Neurol. 2019;25(5):1265–1288. doi:10.1212/CON.0000000000000769.
  • Teng D, Peng CX, Qian HY, Li L, Wang W, Wang JQ, et al. Structural impairment patterns in peripapillary retinal fiber layer and retinal ganglion cell layer in mitochondrial optic neuropathies. Int J Ophthalmol. 2018;11(10):1643–1648. doi:10.18240/ijo.2018.10.11.
  • Karmon G, Savir H, Zevin D, Levi J. Bilateral optic neuropathy due to combined ethambutol and isoniazid treatment. Ann Ophthalmol. 1979;11:1013–1017.
  • Chowdhury B, Nagpaul AK, Chowdhury D. Leber’s hereditary optic neuropathy masquerading as ethambutol-induced optic neuropathy in a young male. Indian J Ophthalmol. 2006;54(3):218–219. doi:10.4103/0301-4738.27091.
  • Fang J-T, Chen Y-C, Chang M-Y. Ethambutol-Induced optic neuritis in patients with end stage renal disease on hemodialysis: two case reports and literature review. Ren Fail. 2004;26(2):189–193. doi:10.1081/JDI-120038521.
  • Hwang J-M, Kim J, Park SS. Leber’s hereditary optic neuropathy mutations in ethambutol-induced optic neuropathy. J Neurol. 2003;250(1):87–89. doi:10.1007/s00415-003-0960-0.
  • Ikeda A, Ikeda T, Ikeda N, Kawakami Y, Mimura O. Leber’s hereditary optic neuropathy precipitated by ethambutol. Jpn J Ophthalmol. 2006;50(3):280–283. doi:10.1007/s10384-005-0308-7.
  • Ormerod LP, Skinner C, Wales J. Hepatotoxicity of antituberculosis drugs. Thorax. 1996;51(2):111–113. doi:10.1136/thx.51.2.111.
  • Singh A, Prasad R, Balasubramanian V, Gupta N, Gupta P. Prevalence of adverse drug reaction with first-line drugs among patients treated for pulmonary tuberculosis. Clin Epidemiol Glob Health. 2015;3:S80–90. doi:10.1016/j.cegh.2015.10.005.
  • Tugwell P, James SL. Peripheral neuropathy with ethambutol. Postgrad Med J. 1972;48:667–670.
  • Guillet V, Chevrollier A, Cassereau J, Letournel F, Gueguen N, Richard L, et al. Ethambutol-Induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity. Mitochondrion. 2010;10(2):115–124. doi:10.1016/j.mito.2009.11.004.
  • Pradhan M, Sharp D, Best S, Vincent A, Vaphiades M. Drug-induced optic neuropathy—TB or not TB. Surv Ophthalmol. 2010;55(4):378–385. doi:10.1016/j.survophthal.2009.10.005.
  • Seo JH, Hwang JM, Park SS. Antituberculosis medication as a possible epigenetic factor of Leber’s hereditary optic neuropathy. Clin Exp Ophthalmol. 2010;38(4):363–366. doi:10.1111/j.1442-9071.2010.02240.x.
  • Fonkem E, Skordilis MA, Binkley EM, Raymer DS, Epstein A, Arnold WD, et al. Ethambutol toxicity exacerbating the phenotype of CMT2A2. Muscle Nerve. 2013;48(1):140–144. doi:10.1002/mus.23766.
  • Leibold JE. The ocular toxicity of ethambutol and its relation to dose*. Ann N Y Acad Sci. 1966;135(2):904–909. doi:10.1111/j.1749-6632.1966.tb45532.x.
  • World Health Organization. Guidelines for Treatment of Drug-Susceptible Tuberculosis and Patient Care. World Health Organization; 2017:80.
  • Griffith DE, Aksamit T, Brown-Elliott BA, Catanzaro A, Daley C, Gordin F, et al. An official ATS/IDSA statement: diagnosis, treatment, and prevention of nontuberculous mycobacterial diseases. Am J Respir Crit Care Med. 2007;175(4):367–416. doi:10.1164/rccm.200604-571ST.
  • Lee EJ, Kim S-J, Choung HK, Kim JH, Yu YS. Incidence and clinical features of ethambutol-induced optic neuropathy in Korea. J Neuro-Ophthalmol off J North Am Neuro-Ophthalmol Soc. 2008;28(4):269–277. doi:10.1097/WNO.0b013e31818e3c6b.
  • Citron KM, Thomas GO. Ocular toxicity from ethambutol. Thorax. 1986;41(10):737–739. doi:10.1136/thx.41.10.737.
  • De Palma P, Franco F, Bragliani G, Michetti L, Marescotti A, Pirazzoli G, et al. The incidence of optic neuropathy in 84 patients treated with ethambutol. Metab Pediatr Syst Ophthalmol N Y N. 1989;12(1–3):80–82.
  • Srivastava AK, Goel UC, Bajaj S, Singh KJ, Dwivedi NC, Tandon MP. Visual evoked responses in ethambutol induced optic neuritis. J Assoc Physicians India. 1997;45:847–849.
  • Goyal JL, De Sarmi DE, Singh NP, Bhatia A. Evaluation of visual functions in patients on ethambutol therapy for tuberculosis: a prospective study. J Commun Dis. 2003;35:230–243.
  • Hasenbosch RE, Alffenaar JWC, Koopmans SA, Kosterink JGW, van der Werf TS, van Altena R. Ethambutol-Induced optical neuropathy: risk of overdosing in obese subjects. Int J Tuberc Lung Dis off J Int Union Tuberc Lung Dis. 2008;12:967–971.
  • Chen H-Y, Lai S-W, Muo C-H, Chen P-C, Wang I-J. Ethambutol-Induced optic neuropathy: a nationwide population-based study from Taiwan. Br J Ophthalmol. 2012;96(11):1368–1371. doi:10.1136/bjophthalmol-2012-301870.
  • Chen S-C, Lin M-C, Sheu S-J. Incidence and prognostic factor of ethambutol-related optic neuropathy: 10-year experience in southern Taiwan. Kaohsiung J Med Sci. 2015;31(7):358–362. doi:10.1016/j.kjms.2015.05.004.
  • Yang HK, Park MJ, Lee J-H, Lee C-T, Park JS, Hwang J-M. Incidence of toxic optic neuropathy with low-dose ethambutol. Int J Tuberc Lung Dis off J Int Union Tuberc Lung Dis. 2016;20(2):261–264. doi:10.5588/ijtld.15.0275.
  • Mandal S, Saxena R, Dhiman R, Mohan A, Padhy SK, Phuljhele S, et al. Prospective study to evaluate incidence and indicators for early detection of ethambutol toxicity. Br J Ophthalmol. 2021;105(7):1024–1028. doi:10.1136/bjophthalmol-2020-316897.
  • Palomino JC, Martin A. Drug resistance mechanisms in mycobacterium tuberculosis. Antibiotics. 2014;3(3):317–340. doi:10.3390/antibiotics3030317.
  • Abrahams KA, Besra GS. Mycobacterial cell wall biosynthesis: a multifaceted antibiotic target. Parasitology. 2018;145(2):116–133. doi:10.1017/S0031182016002377.
  • Schubert K, Sieger B, Meyer F, Giacomelli G, Böhm K, Rieblinger A, et al. The antituberculosis drug ethambutol selectively blocks apical growth in CMN group bacteria. MBio. 2017;8(1):e02213–16. doi:10.1128/mBio.02213-16.
  • Chen R, Zhang Y, Tang S, Lv X, Wu S, Sun F, et al. The association between HLA-DQB1 polymorphism and antituberculosis drug-induced liver injury: a case-control study. J Clin Pharm Ther. 2015;40(1):110–115. doi:10.1111/jcpt.12211.
  • Chung H, Yoon YH, Hwang JJ, Cho KS, Koh JY, Kim J-G. Ethambutol-Induced toxicity is mediated by zinc and lysosomal membrane permeabilization in cultured retinal cells. Toxicol Appl Pharmacol. 2009;235(2):163–170. doi:10.1016/j.taap.2008.11.006.
  • Zhang X-H, Xie Y, Xu Q-G, Cao K, Xu K, Jin Z-B, et al. Mitochondrial mutations in ethambutol-induced optic neuropathy. Front Cell Dev Biol. 2021;9:754676. doi:10.3389/fcell.2021.754676.
  • Chen L, Liang Y. Optic nerve neuropathy by ethambutol toxicity. Chin J Tuberc Respir Dis. 1999;22:302–304.
  • Shoubridge EA. Nuclear genetic defects of oxidative phosphorylation. Hum Mol Genet. 2001;10(20):2277–2284. doi:10.1093/hmg/10.20.2277.
  • DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med. 2003;348(26):2656–2668. doi:10.1056/NEJMra022567.
  • Levin LA. Superoxide generation explains common features of optic neuropathies associated with cecocentral scotomas. J Neuro-Ophthalmol off J North Am Neuro-Ophthalmol Soc. 2015;35(2):152–160. doi:10.1097/WNO.0000000000000250.
  • Sruthi S, Anuradha A. Ethambutol induced optic neuritis: a case series. Int J Basic Clin Pharmacol. 2019;9(1):207–210. doi:10.18203/2319-2003.ijbcp20195788.
  • Buyske DA, Peets E, Sterling W. Pharmacological and biochemical studies on ethambutol in laboratory animals. Ann N Y Acad Sci. 1966;135(2):711–725. doi:10.1111/j.1749-6632.1966.tb45517.x.
  • Heng JE, Vorwerk CK, Lessell E, Zurakowski D, Levin LA, Dreyer EB. Ethambutol is toxic to retinal ganglion cells via an excitotoxic pathway. Invest Ophthalmol Vis Sci. 1999;40:190–196.
  • Yoon YH, Jung KH, Sadun AA, Shin HC, Koh JY. Ethambutol-Induced vacuolar changes and neuronal loss in rat retinal cell culture: mediation by endogenous zinc. Toxicol Appl Pharmacol. 2000;162(2):107–114. doi:10.1006/taap.1999.8846.
  • Carelli V, Ross-Cisneros FN, Sadun AA. Mitochondrial dysfunction as a cause of optic neuropathies. Prog Retin Eye Res. 2004;23(1):53–89. doi:10.1016/j.preteyeres.2003.10.003.
  • Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF. Inherited mitochondrial optic neuropathies. J Med Genet. 2009;46(3):145–158. doi:10.1136/jmg.2007.054270.
  • Chevrollier A, Guillet V, Loiseau D, et al. Hereditary optic neuropathies share a common mitochondrial coupling defect. Ann Neurol. 2008;63(6):794–798. doi:10.1002/ana.21385.
  • WNasemann J, Zrenner E, Riedel KG. Recovery after severe ethambutol intoxication--psychophysical and electrophysiological correlations. Doc Ophthalmol Adv Ophthalmol. 1989;71(3):279–92.
  • Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, et al. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet. 2000;26(2):211–215. doi:10.1038/79944.
  • Olichon A, Baricault L, Gas N, Guillou E, Valette A, Belenguer P, et al. Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis. J Biol Chem. 2003;278(10):7743–7746. doi:10.1074/jbc.C200677200.
  • Züchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL, et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet. 2004;36(5):449–451. doi:10.1038/ng1341.
  • Saxena R, Singh D, Phuljhele S, Kalaiselvan V, Karna S, Gandhi R, et al. Ethambutol toxicity: expert panel consensus for the primary prevention, diagnosis and management of ethambutol-induced optic neuropathy. Indian J Ophthalmol. 2021;69(12):3734–3739. doi:10.4103/ijo.IJO_3746_20.
  • Chamberlain PD, Sadaka A, Berry S, Lee AG. Ethambutol optic neuropathy. Curr Opin Ophthalmol. 2017;28(6):545–551. doi:10.1097/ICU.0000000000000416.
  • Narang RK, Varma BMD. Ocular toxicity of Ethambutol (A clinical study). Indian J Ophthalmol. 1979;27:37.
  • Choi SY, Hwang JM. Optic neuropathy associated with ethambutol in Koreans. Korean J Ophthalmol. 1997;11(2):106. doi:10.3341/kjo.1997.11.2.106.
  • Schild HS, Fox BC. Rapid-Onset reversible ocular toxicity from ethambutol therapy. Am J Med. 1991;90(3):404–406. doi:10.1016/0002-9343(91)90588-O.
  • Boulanger Scemama E, Touitou V, Le Hoang P. Bitemporal hemianopia as presenting sign of severe ethambutol toxicity. J Fr Ophtalmol. 2013;36(9):e163–167. doi:10.1016/j.jfo.2012.12.008.
  • Melamud A, Kosmorsky GS, Lee MS. Ocular ethambutol toxicity. Mayo Clin Proc. 2003;78(11):1409–1411. doi:10.4065/78.11.1409.
  • Zoumalan CI, Sadun AA. Optical coherence tomography can monitor reversible nerve-fibre layer changes in a patient with ethambutol-induced optic neuropathy. Br J Ophthalmol. 2007;91(6):839–840. doi:10.1136/bjo.2006.107326.
  • Woung LC, Jou JR, Liaw SL. Visual function in recovered ethambutol optic neuropathy. J Ocul Pharmacol Ther off J Assoc Ocul Pharmacol Ther. 1995;11(3):411–419. doi:10.1089/jop.1995.11.411.
  • Sharma P, Sharma R. Toxic optic neuropathy. Indian J Ophthalmol. 2011;59(2):137.
  • Sheng W-Y, Su L-Y, Ge W, Wu S-Q, Zhu L-W. Analysis of structural injury patterns in peripapillary retinal nerve fibre layer and retinal ganglion cell layer in ethambutol-induced optic neuropathy. BMC Ophthalmol. 2021;21(1):132. doi:10.1186/s12886-021-01881-y.
  • Mehta S. Patterns of ethambutol ocular toxicity in extended use therapy. Cureus. 2019;11:e4408.
  • Lu PG, Kung NH, Van Stavern GP. Ethambutol optic neuropathy associated with enhancement at the optic chiasm. Can J Ophthalmol J Can Ophtalmol. 2017;52(5):e178–81. doi:10.1016/j.jcjo.2017.03.001.
  • Guerra R, Casu L. Hydroxycobalamin for ethambutol-induced optic neuropathy. Lancet Lond Engl. 1981;2(8256):1176. doi:10.1016/S0140-6736(81)90631-0.
  • Tsai RK, Lee YH. Reversibility of ethambutol optic neuropathy. J Ocul Pharmacol Ther off J Assoc Ocul Pharmacol Ther. 1997;13(5):473–477. doi:10.1089/jop.1997.13.473.
  • Nema N, Verma A, Singh K, Mehar V. Management of paradoxical response in pediatric tubercular meningitis with methylprednisolone. Middle East Afr J Ophthalmol. 2014;21(2):189–192. doi:10.4103/0974-9233.129775.
  • Xu J, Dai Q, Wu S, Sheng W, Zhao S, Zhong L. Treatment of ethambutol-induced optic neuropathy by buqihuoxue formula combined with methycobal. Int J Clin Exp Med. 2017;10:7011–7015.
  • Si M, Li H, Chen Y, Peng H. Ethambutol and isoniazid induced severe neurotoxicity in a patient undergoing continuous ambulatory peritoneal dialysis. BMJ Case Rep. 2018;2018:bcr-2017–223187. doi:10.1136/bcr-2017-223187.
  • Matsumoto T, Kusabiraki R, Arisawa A, Fujiki T, Noda A, Tanaka A, et al. Drastically progressive ethambutol-induced optic neuropathy after withdrawal of ethambutol: a case report and literature review. Intern Med Tokyo Jpn. 2021;60(11):1785–1788. doi:10.2169/internalmedicine.6178-20.
  • Şahin A, Kürşat Cingü A, Kaya S, Türkcü G, Arı Ş, Evliyaoğlu O, et al. The protective effects of caffeic acid phenethyl ester in isoniazid and ethambutol-induced ocular toxicity of rats. Cutan Ocul Toxicol. 2013;32(3):228–233. doi:10.3109/15569527.2012.759958.

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