Central retinal vein occlusion as the initial manifestation of LHON / MELAS overlap syndrome with mitochondrial DNA G13513A mutation—Case report and literature review

REFERENCES

• Yen MY, Wang AG, Wei YH. Leber’s hereditary optic neuropathy: a multifactorial disease. Prog Retin Eye Res 2006;25:381–396.
   PubMed Web of Science ®Google Scholar
• Riordan-Eva P, Sanders MD, Govan GG, et al. The clinical features of Leber’s hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 1995;118:319–337.
   PubMed Web of Science ®Google Scholar
• Pulkes T, Eunson L, Patterson V, et al. The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS. Ann Neurol 1999;46:916–919.
   PubMed Web of Science ®Google Scholar
• Funalot B, Reynier P, Vighetto A, et al. Leigh-like encephalopathy complicating Leber’s hereditary optic neuropathy. Ann Neurol 2002;52:374–377.
   PubMed Web of Science ®Google Scholar
• Liolitsa D, Rahman S, Benton S, et al. Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? Ann Neurol 2003;53:128–132.
   PubMed Web of Science ®Google Scholar
• Blakely EL, de Silva R, King A, et al. LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation. Eur J Hum Genet 2005;13:623–627.
   PubMed Web of Science ®Google Scholar
• Spruijt L, Smeets HJ, Hendrickx A, et al. A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia. Arch Neurol 2007;64:890–893.
   PubMed Web of Science ®Google Scholar
• Newman NJ, Lott MT, Wallace DC. The clinical characteristics of pedigrees of Leber’s hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol 1991;111:750–762.
   PubMed Web of Science ®Google Scholar
• Barboni P, Savini G, Valentino ML, et al. Retinal nerve fiber layer evaluation by optical coherence tomography in Leber’s hereditary optic neuropathy. Ophthalmology 2005;112:120–126.
   PubMed Web of Science ®Google Scholar
• Barboni P, Carbonelli M, Savini G, et al., Natural history of Leber′s hereditary optic neuropathy: longitudinal analysis of the retinal nerve fiber layer by optical coherence tomography. Ophthalmology 2009; 117:623–627.
   Google Scholar
• Samarawickrama C, Wang JJ, Huynh SC, et al. Ethnic differences in optic nerve head and retinal nerve fiber layer thickness parameters. Br J Ophthalmol 2010; 94:871–876.
   PubMed Web of Science ®Google Scholar
• Carelli V, Ross-Cisneros FN, Sadun AA. Mitochondrial dysfunction as a cause of optic neuropathies. Prog Retin Eye Res 2004;23:53–89.
   PubMed Web of Science ®Google Scholar
• Hardy P, Beauchamp M, Sennlaub F, et al. New insights into the retinal circulation: inflammatory lipid mediators in ischemic retinopathy. Prostaglandins Leukot Essent Fatty Acids 2005;72:301–325.
   PubMedGoogle Scholar
• Erickson RP. Leber’s optic atrophy, a possible example of maternal inheritance. Am J Hum Genet 1972;24:348–349.
   PubMed Web of Science ®Google Scholar
• Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy. Science 1988;242:1427–1430.
   PubMed Web of Science ®Google Scholar
• Valentino ML, Barboni P, Rengo C, et al. The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype. J Med Genet 2006;43:e38.
   Google Scholar
• Mayorov V, Biousse V, Newman NJ, et al. The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation. Ann Neurol 2005;58:807–811.
   PubMed Web of Science ®Google Scholar
• Santorelli FM, Tanji K, Kulikova R, et al. Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. Biochem Biophys Res Commun 1997;238:326–328.
   PubMed Web of Science ®Google Scholar
• Pénisson-Besnier I, Reynier P, Asfar P, et al. Recurrent brain hematomas in MELAS associated with an ND5 gene mitochondrial mutation. Neurology 2000;55:317–318.
   PubMedGoogle Scholar
• Corona P, Antozzi C, Carrara F, et al. A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients. Ann Neurol 2001;49:106–110.
   PubMedGoogle Scholar
• Chol M, Lebon S, Bénit P, et al. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency. J Med Genet 2003;40:188–191.
   PubMed Web of Science ®Google Scholar
• Kirby DM, Boneh A, Chow CW, et al. Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh’s disease. Ann Neurol 2003;54:473–478.
   PubMed Web of Science ®Google Scholar
• Petruzzella V, Di Giacinto G, Scacco S, et al. Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit. Neurology 2003;61:1017–1018.
   PubMed Web of Science ®Google Scholar
• Bugiani M, Invernizzi F, Alberio S, et al. Clinical and molecular findings in children with complex I deficiency. Biochem Biophys Acta 2004;1659:136–147.
   PubMedGoogle Scholar
• Sudo A, Honzawa S, Nonaka I, et al. Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan. J Hum Genet 2004;49:92–96.
   PubMed Web of Science ®Google Scholar
• Ruiter EM, Siers MH, van den Elzen C, et al. The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White. Eur J Hum Genet 2007;15:155–161.
   PubMedGoogle Scholar
• Shanske S, Coku J, Lu J, et al. The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases. Arch Neurol 2008;65:368–372.
   PubMedGoogle Scholar
• Wang SB, Weng WC, Lee NC, et al. Mutation of mitochondrial DNA G13513A presenting with Leigh syndrome, Wolff-Parkinson-White syndrome and cardiomyopathy. Pediatr Neonatol 2008;49:145–149.
   PubMedGoogle Scholar
• Brautbar A, Wang J, Abdenur JE, et al. The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle. Mol Genet Metab 2008;94:485–490.
   PubMed Web of Science ®Google Scholar
• Wei XQ, Kong QP, Zhang Y, et al. [A case of Leigh syndrome associated with respiratory chain complex I deficiency due to mitochondrial gene 13513G>A mutation]. Zhongguo Dang Dai Er Ke Za Zhi 2009;11:333–336.
   PubMedGoogle Scholar
• Finsterer J. Leigh and Leigh-like syndrome in children and adults. Pediatr Neurol 2008;39:223–235.
   PubMed Web of Science ®Google Scholar
• Simon DK, Johns DR. Mitochondrial disorders: clinical and genetic features. Annu Rev Med 1999;50:111–127.
   PubMed Web of Science ®Google Scholar
• Sproule DM, Kaufmann P. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome. Ann N Y Acad Sci 2008;1142:133–158.
   PubMed Web of Science ®Google Scholar
• Mann ES, Handler SP, Chung SM. Leber’s hereditary optic neuropathy masquerading as retinal vasculitis. Arch Ophthalmol 2000;118:1587–1589.
   PubMedGoogle Scholar
• Koga Y, Akita Y, Junko N, et al. Endothelial dysfunction in MELAS improved by l-arginine supplementation. Neurology 2006;66:1766–1769.
   PubMed Web of Science ®Google Scholar
• Sakuta R, Nonaka I. Vascular involvement in mitochondrial myopathy. Ann Neurol 1989;25:594–601.
   PubMed Web of Science ®Google Scholar
• Naini A, Kaufmann P, Shanske S, et al. Hypocitrullinemia in patients with MELAS: an insight into the “MELAS paradox”. J Neurol Sci 2005;229–230:187–193.
   PubMed Web of Science ®Google Scholar
• Stone EM, Newman NJ, Miller NR, et al. Visual recovery in patients with Leber’s hereditary optic neuropathy and the 11778 mutation. J Clin Neuroophthalmol 1992;12:10–14.
   PubMedGoogle Scholar
• Mackey D, Howell N. A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. Am J Hum Genet 1992;51:1218–1228.
   PubMed Web of Science ®Google Scholar
• Huang CC, Kuo HC, Chu CC, et al. Rapid visual recovery after coenzyme q10 treatment of leber hereditary optic neuropathy. J Neuroophthalmol 2002;22:66.
   PubMed Web of Science ®Google Scholar
• Ihara Y, Namba R, Kuroda S, et al. Mitochondrial encephalomyopathy (MELAS): pathological study and successful therapy with coenzyme Q10 and idebenone. J Neurol Sci 1989;90:263–271.
   PubMed Web of Science ®Google Scholar
• Abe K, Matsuo Y, Kadekawa J, et al. Effect of coenzyme Q10 in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): evaluation by noninvasive tissue oximetry. J Neurol Sci 1999;162:65–68.
   PubMed Web of Science ®Google Scholar
• Berbel-Garcia A, Barbera-Farre JR, Etessam JP, et al. Coenzyme Q 10 improves lactic acidosis, strokelike episodes, and epilepsy in a patient with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes). Clin Neuropharmacol 2004;27:187–191.
   PubMed Web of Science ®Google Scholar