The neuro-ophthalmology of mitochondrial disease

Survey of Ophthalmology

Volumn 55, Issue 4, 2010, Pages 299-334

  Fraser, J Alexander ^a   Biousse, Valérie ^a   Newman, Nancy J ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

chronicprogressiveexternalophthalmoplegia; dominantopticatrophy; Kearns Sayresyndrome; Leberhereditaryopticneuropathy; MELAS; mitochondria; NARP; neuro ophthalmology; pigmentaryretinopathy

Indexed keywords

2 OXOGLUTARIC ACID; ALPHA TOCOPHEROL; ARGININE; ASCORBIC ACID; ASPARTIC ACID; BRIMONIDINE; CARNITINE; CELL NUCLEUS DNA; CREATINE; DICHLOROACETIC ACID; GENE PRODUCT; IDEBENONE; INSULIN; MANGANESE SUPEROXIDE DISMUTASE; MENADIOL SODIUM PHOSPHATE; MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN; PARVOVIRUS VECTOR; PROTEIN ND4; RIBOFLAVIN; THIOCTIC ACID; UBIDECARENONE; UNCLASSIFIED DRUG;

ANAMNESIS; ATAXIA; CARNITINE DEFICIENCY; CELL FUNCTION; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL FEATURE; CLINICAL TRIAL; COMPLEX I DEFICIENCY; COMPLEX III DEFICIENCY; DIAGNOSTIC APPROACH ROUTE; DISEASE CLASSIFICATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DRUG EFFICACY; EYE EXAMINATION; EYE SURGERY; FAMILY HISTORY; FRIEDREICH ATAXIA; GENE MUTATION; GENE THERAPY; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HYPERGLYCEMIA; INHERITANCE; LEBER HEREDITARY OPTIC NEUROPATHY; LEIGH DISEASE; MELAS SYNDROME; MITOCHONDRIAL MYOPATHY; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; MUSCLE WEAKNESS; NEUROLOGIC EXAMINATION; NEUROOPHTHALMOLOGY; NEUROPATHY; NONHUMAN; OPTIC NERVE ATROPHY; PATHOGENESIS; PATHOPHYSIOLOGY; PERIPHERAL NEUROPATHY; PIGMENTARY RETINOPATHY; PRIORITY JOURNAL; PROGNOSIS; RETINITIS PIGMENTOSA; RETINOPATHY; REVIEW; SOMATIC CELL GENETICS; SYMPTOM; VISUAL IMPAIRMENT; WOLFRAM SYNDROME; COMPLICATION; EYE DISEASES; GENETICS; GENOTYPE; MITOCHONDRIAL DISEASES; NERVOUS SYSTEM DISEASES; PHENOTYPE;

DNA, MITOCHONDRIAL; EYE DISEASES; GENOTYPE; HUMANS; MITOCHONDRIAL DISEASES; NERVOUS SYSTEM DISEASES; PHENOTYPE;

EID: 77953622439     PISSN: 00396257     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.survophthal.2009.10.002     Document Type: Review

References (263)

1. Abe K., Yoshimura H., Tanaka H., et al. Comparison of conventional and diffusion-weighted MRI and proton MR spectroscopy in patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like events. Neuroradiology 2004, 46:113-117.
2. Adjadj E., Mansouri K., Borruat F.X., Mitochondrial D.N.A. (mtDNA) A3243G mutation associated with an annular perimacular retinal atrophy. Klin Monatsbl Augenheilkd 2008, 225:462-464.
3. Ahn J., Kim N.J., Choung H.K., et al. Frontalis sling operation using silicone rod for the correction of ptosis in chronic progressive external ophthalmoplegia. Br J Ophthalmol 2008, 92:1685-1688.
4. Aijaz S., Erskine L., Jeffery G., et al. Developmental expression profile of the optic atrophy gene product: OPA1 is not localized exclusively in the mammalian retinal ganglion cell layer. Invest Ophthalmol Visual Sci 2004, 45:1667-1673.
5. Amati-Bonneau P., Milea D., Bonneau D., et al. OPA1-associated disorders: phenotypes and pathophysiology. Int J Biochem Cell Biol 2009, 41:1855-1865.
6. Amati-Bonneau P., Odent S., Derrien C., et al. The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene. Am J Ophthalmol 2003, 136:1170-1171.
7. Amati-Bonneau P., Valentino M.L., Reynier P., et al. OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain 2008, 131:338-351.
8. Andrews R.M., Griffiths P.G., Johnson M.A., et al. Histochemical localization of mitochondrial enzyme activity in human optic nerve and retina. Br J Ophthalmol 1999, 83:231-235.
9. Bacman S.R., Williams S.L., Hernandez D., et al. Modulating mtDNA heteroplasmy by mitochondria-targeted restriction endonucleases in a 'differential multiple cleavage-site' model. Gene Ther 2007, 14:1309-1318.
10. Barbet F., Hakiki S., Orssaud C., et al. A third locus for dominant optic atrophy on chromosome 22q. J Med Genet 2005, 42:e1.
11. Barboni P., Savini G., Valentino M.L., et al. Leber's hereditary optic neuropathy with childhood onset. Invest Ophthalmol Vis Sci 2006, 47:5303-5309.
12. Barboni P., Savini G., Valentino M.L., et al. Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy. Ophthalmology 2005, 112:120-126.
13. Barrett T.G., Bundley S.E., Fielder A.R., et al. Optic atrophy in Wolfram (DIDMOAD) syndrome. Eye 1997, 11:882-888.
14. Barrientos A., Volpini V., Casademont J., et al. A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. J Clin Invest 1996, 97:1570-1576.
15. Bernardini F.P., de Conciliis C., Devoto M.H. Frontalis suspension sling using a silicone rod in patients affected by myogenic blepharoptosis. Orbit 2002, 21:195-198.
16. Bette S., Schlaszus H., Wissinger B., et al. OPA1, associated with autosomal dominant optic atrophy, is widely expressed in the human brain. Acta Neuropathol 2005, 109:393-399.
17. Bette S., Zimmermann U., Wissinger B., et al. OPA1, the disease gene for optic atrophy type Kjer, is expressed in the inner ear. Histochem Cell Biol 2007, 128:421-430.
18. Betts J., Jaros E., Perry R.H., et al. Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement. Neuropath Appl Neurobiol 2006, 32:359-373.
19. Bhatti M.T., Newman N.J. A multiple sclerosis-like illness in a man harboring the mtDNA 14484 mutation. J Neuroopthalmol 1999, 19:28-33.
20. Biousse V., Brown M.D., Newman N.J., et al. De novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber's hereditary optic neuropathy. Neurology 1997, 49:1136-1138.
21. Blakely E.L., 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.
22. Bourgeois J.M., Tarnopolsky M.A. Pathology of skeletal muscle in mitochondrial disorders. Mitochondrion 2004, 4:441-452.
23. Bremner F.D., Tomlin E.A., Shallo-Hoffmann J., et al. The pupil in dominant optic atrophy. Invest Ophthalmol Vis Sci 2001, 42:675-678.
24. Bristow E.A., Griffiths P.G., Weber K., et al. The distribution of mitochondrial activity in relation to optic nerve structure. Arch Ophthalmol 2002, 120:791-796.
25. Brown D.T., Herbert M., Lamb V.K., et al. Transmission of mitochondrial DNA disorders: possibilities for the future. Lancet 2006, 368:87-89.
26. Campos Y., Garcia-Silva T., Barrionuevo C.R., et al. Mitochondrial DNA deletion in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome. Pediatr Neurol 1995, 13:69-72.
27. Leu(CUN) mutation of mitochondrial DNA. J Neurol Sci 2008, 272:106-109.
28. Carelli V., Baracca A., Barogi S., et al. Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation. Arch Neurol 2002, 59:264-270.
29. Carelli V., Ross-Cisneros F.N., Sadun A.A. Mitochondrial dysfunction as a cause of optic neuropathies. Prog Retin Eye Res 2004, 23:53-89.
30. Carelli V., Ross-Cisneros F.N., Sadun A.A. Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies. Neurochem Int 2002, 40:573-584.
31. Carlow T.J., Depper M.H., Orrison W.W. MR of extraocular muscles in chronic progressive ophthalmoplegia. Am J Neuroradiol 1998, 19:95-99.
32. Casari G., de Fusco M., Ciarmatori S., et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloproteinase. Cell 1998, 93:973-983.
33. Chalmers R.M., Bird A.C., Harding A.E. Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy. J Neurol Neurosurg Psychiatry 1996, 60:195-196.
34. Chalmers R.M., Riordan-Eva P., Wood N.W. Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy. J Neurol Neurosurg Psychiatry 1996, 62:385-387.
35. Chan D.C. Mitochondrial dynamics in disease. N Engl J Med 2007, 356:1707-1709.
36. Chang T.S., Johns D.R., Walker D., et al. Ocular clinicopathologic study of the mitochondrial encephalomyopathy overlap syndromes. Arch Ophthalmol 1993, 111:1254-1262.
37. Chen H., Chan D.C. Critical dependence of neurons on mitochondrial dynamics. Curr Opin Cell Biol 2006, 18:453-459.
38. Chen H., McCaffery J.M., Chan D.C. Mitochondrial fusion protects against neurodegeneration in the cerebellum. Cell 2007, 130:548-562.
39. Chen X., Prosser R., Simonetti S., et al. Rearranged mitochondrial genomes are present in human oocytes. Am J Hum Genet 1995, 57:239-247.
40. Chinnery P.F., Andrews R.M., Turnbull D.M., et al. Leber hereditary optic neuropathy: does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?. Am J Med Genet 2001, 98:235-243.
41. Chinnery P.F., Brown D.T., Andrews R.M., et al. The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. Brain 2001, 124:209-218.
42. Chinnery P.F., DiMauro S., Shanske S., et al. Risk of developing a mitochondrial DNA deletion disorder. Lancet 2004, 364:592-596.
43. Chinnery P.F., Howell N., Andrews R.M., et al. Mitochondrial DNA analysis; polymorphisms and pathogenicity. J Med Genet 1999, 36:505-510.
44. Chinnery P.F., Majaama K., Turnbull D., et al. Treatment for mitochondrial disorders. Cochrane Database Syst Rev 2006, 1. CD004426.
45. Chu B.C., Terae S., Takayashi C., et al. MRI of the brain in the Kearns-Sayre syndrome: report of four cases and a review. Neuroradiology 1999, 41:759-764.
46. Cohn A.C., Toomes C., Hewitt A.W., et al. The natural history of OPA1-related autosomal dominant optic atrophy. Br J Ophthalmol 2008, 92:1333-1336.
47. Cohn A.C., Toomes C., Potter C., et al. Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations. Am J Ophthalmol 2007, 143:656-662.
48. Cryns K., Sivakumaran T.A., van den Ouweland J.M., et al. Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. Hum Mutat 2003, 22:275-287.
49. Daut P.M., Steinemann T.L., Westfall C.T. Chronic exposure keratopathy complicating surgical correction of ptosis in patients with chronic progressive external ophthalmoplegia. Am J Ophthalmol 2000, 130:519-521.
50. Davies V.J., Powell K.A., White K.E., et al. A missense mutation in the murine OPA3 gene models human Costeff syndrome. Brain 2008, 131:368-380.
51. De Michele G., de Fusco M., Cavalcanti F., et al. A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. Am J Hum Genet 1998, 63:135-139.
52. Delettre C., Lenaers G., Pelloquin L., et al. OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease. Mol Genet Metab 2002, 75:97-107.
53. Di Giovanni S., Mirabella M., Spinazzola A., et al. Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency. Neurology 2001, 57:515-518.
54. Di Donato S. Multisystem manifestations of mitochondrial disorders. J Neurol 2009, 256:693-710.
55. Di Prospero N.A., Baker A., Jeffries N., et al. Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomized, placebo-controlled trial. Lancet Neurol 2007, 6:878-886.
56. DiMauro S., Mancuso M. Mitochondrial diseases: therapeutic approaches. Biosci Rep 2007, 27:125-137.
57. DiMauro S., Schon E. Mitochondrial disorders in the nervous system. Ann Rev Neurosci 2008, 31:91-123.
58. DiMauro S., Schon E. Mitochondrial respiratory-chain diseases. N Engl J Med 2003, 348:2656-2668.
59. Domenech E., Gomez-Zaera M., Nunes V. Wolfram/DIDMOAD syndrome, a heterogenic and molecularly complex neurodegenerative disease. Pediatr Endocrinol Rev 2006, 3:249-257.
60. Eliott D., Traboulsi E.I., Maumenee I.H. Visual prognosis in autosomal dominant optic atrophy (Kjer type). Am J Ophthalmol 1993, 115:360-367.
61. Ellouze S., Augustin S., Bouaita A., et al. Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction. Am J Hum Genet 2008, 83:373-387.
62. Enns G.M., Bai R.-K., Beck A.E., Wong L.-J. Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load. Mol Genet Metab 2006, 88:364-371.
63. Ferrante K.L., Shefner J., Zhang H., et al. Tolerance of high-dose (3,000 mg/day) coenzyme Q10 in ALS. Neurology 2005, 65:1834-1836.
64. Ferre M., Amati-Bonneau P., Tourmen Y., et al. eOPA1: an online database for OPA1 mutations. Hum Mutat 2005, 25:423-428.
65. Ferre M., Bonneau D., Chevrollier A., et al. Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Hum Mutat 2009, 30:E692-E705.
66. Finsterer J. Central nervous system manifestations of mitochondrial disorders. Acta Neurol Scand 2006, 114:217-238.
67. Finsterer J. Overview on visceral manifestations of mitochondrial disorders. Neth J Med 2006, 64:61-71.
68. Floreani M., Napoli E., Martinuzzi A., et al. Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy. FEBS J 2005, 272:1124-1135.
69. Fortuna F., Barboni P., Liguori R., et al. Visual system involvement in patients with Friedreich's ataxia. Brain 2009, 132:116-123.
70. Frezza C., Cipolat S., Martins de Brito O., et al. OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion. Cell 2006, 126:177-189.
71. Giraudet S, Lamirel C, Amati-Bonneau P, et al. Never too old to harbor a young man's disease? Br J Ophthalmol. (in press).
72. Givre S.J., Wall M., Kardon R.H. Visual loss and recovery in a patient with Friedreich ataxia. J Neuroophthalmol 2000, 20:229-233.
73. Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990, 348:651-653.
74. Goto Y.I. Clinical features of MELAS and mitochondrial DNA mutations. Muscle Nerve 1995, 3:S107-S112.
75. Gropman A., Chen T.-J., Perng C.-L., et al. Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation. Am J Med Genet A 2004, 124A:377-382.
76. Guy J., Qi X., Koilkonda R.D., et al. Efficiency and safety of AAV mediated gene delivery of the human ND4 complex I subunit in the mouse visual system. Invest Ophthalmol Vis Sci 2009, 50:4205-4214.
77. Guy J., Qi X., Pallotti F., et al. Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy. Ann Neurol 2002, 52:534-542.
78. Han J., Thompson-Lowrey A.J., Reiss A., et al. OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy. Genet Med 2006, 8:217-225.
79. Hansrote S., Croul S., Selak M., et al. External ophthalmoplegia with severe progressive multiorgan involvement associated with the mtDNA A3243G mutation. J Neurol Sci 2002, 197:63-67.
80. Harding A.E., Sweeney M.G., Govan G.G., et al. Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation. Am J Hum Genet 1995, 57:77-86.
81. Heidenreich J.O., Klopstock T., Schirmer T., et al. Chronic progressive external ophthalmoplegia: MR spectroscopy and MR diffusion studies in the brain. AJR Am J Roentgenol 2006, 187:820-824.
82. Hirano M., Pavlakis S.G. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts. J Child Neurol 1994, 9:4-13.
83. Hirano M., Ricci E., Koenigsberger M.R., et al. MELAS: an original case and clinical criteria for diagnosis. Neuromusc Disord 1992, 2:125-135.
84. Hoffman P.N. Myopathies affecting the extraocular muscles. Walsh & Hoyt's clinical neuro-ophthalmology 2005, 1085-1131. Williams & Willkins, Baltimore, MD. ed 6. N.R. Miller, N.J. Newman, V. Biousse, J.B. Kerrison (Eds.).
85. Hofmann S., Bezold R., Jaksch M., et al. Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes. Genomics 1997, 39:8-18.
86. Hofmann S., Jaksch M., Bezond R., et al. Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease. Hum Mol Genet 1997, 6:1835-1846.
87. Holt I.J., Harding A.E., Petty R.H.K., et al. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990, 46:428-433.
88. Howell N., Kubacka I., Xu M., et al. Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. Am J Hum Genet 1991, 48:935-942.
89. Howell N. Leber hereditary optic neuropathy: respiratory chain dysfunction and degeneration of the optic nerve. Vis Res 1998, 38:1495-1504.
90. Hudson G., Amati-Bonneau P., Blakely E.L., et al. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness, and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain 2008, 131:329-337.
91. Hudson G., Carelli V., Spruijt L., et al. Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am J Hum Genet 2007, 81:228-233.
92. Hudson G., Keers S., Man P.Y.W., et al. Identification of an X-chromosomal locus and haplotypes modulating the phenotype of a mitochondrial DNA disorder. Am J Hum Genet 2005, 77:1086-1091.
93. Huoponen K., Puomila A., Savontaus M.L., et al. Genetic counseling in Leber hereditary optic neuropathy (LHON). Acta Ophthalmol Scand 2002, 80:38-43.
94. Iizuka T., Sakai F., Ide T., et al. Regional cerebral blood flow and cerebrovascular reactivity during chronic stage of stroke-like episodes in MELAS-implication of neurovascular cellular mechanism. J Neurol Sci 2007, 257:126-138.
95. Isashiki Y., Nakagawa M., Ohba N., et al. Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutations. Acta Ophthalmol Scand 1998, 76:6-13.
96. Ito Y., Yamakoshi M., Lin T., et al. Reduction of inner retinal thickness in patients with autosomal dominant optic atrophy associated with OPA1 mutations. Invest Ophthalmol Vis Sci 2007, 48:4079-4086.
97. Jackson M.J., Schaefer J.A., Johnson M.A., et al. Presentation and clinical investigation of mitochondrial respiratory chain disease: a study of 51 patients. Brain 1995, 118:339-357.
98. Jacobson D.M., Stone E.M., Miller N.R., et al. Relative afferent pupillary defects in patients with Leber's hereditary optic neuropathy and unilateral visual loss. Am J Ophthalmol 1998, 126:291-295.
99. Jarrett S.G., Lin H., Godley B.G., et al. Mitochondrial DNA damage and its potential role in retinal degeneration. Prog Retin Eye Res 2008, 27:596-607.
100. Jenuth J.P., Peterson A.C., Shoubridge E.A. Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice. Nat Genet 1997, 16:93-95.
101. Jin G.F., Hurst J.S., Godley B.F. Rod outer segments mediate mitochondrial DNA damage and apoptosis in human retinal pigment epithelium. Curr Eye Res 2001, 23:11-19.
102. Johnson P.B., Gaster R.N., Smith V.C., et al. Clinicopathologic study of autosomal dominant optic atrophy. Am J Ophthalmol 1979, 88:868-875.
103. Ju W.K., Misaka T., Kushnareva Y., et al. OPA1 expression in the normal rat retina and optic nerve. J Comp Neurol 2005, 488:1-10.
104. Kamei S., Chen-Kuo-Chang M., Cazevieille C., et al. Expression of the OPA1 mitochondrial protein in retinal ganglion cells: its downregulation causes aggregation of the mitochondrial network. Invest Ophthalmol Visual Sci 2005, 46:4288-4294.
105. Kaufmann P., Engelstad K., Wei Y., et al. Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology 2006, 66:324-330.
106. Kaufmann P., Pascual J.M., Anziska Y., et al. Nerve conduction abnormalities in patients with MELAS and the A3243G mutation. Arch Neurol 2006, 63:746-748.
107. Kaukonen J., Juselius J.K., Tiranti V., et al. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 2000, 289:782-785.
108. Kearns T.P., Sayre G.P. Retinitis pigmentosa, external ophthalmoplegia, and complete heart block. Arch Ophthalmol 1958, 60:280-289.
109. Keightley J.A., Anitori R., Burton M.D., et al. Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. Am J Hum Genet 2000, 67:1400-1410.
110. Kerrison J.B., Arnould V.J., Sallum J.M.F., et al. Genetic heterogeneity of dominant optic atrophy, Kjer type: identification of a second locus on chromosome 18q12.2-12.3. Arch Ophthalmol 1999, 177:805-810.
111. Kerrison J.B., Biousse V., Newman N.J. Retinopathy of NARP syndrome. Arch Ophthalmol 2000, 118:298-299.
112. Kerrison J.B., Miller N.R., Hsu F.C., et al. A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy. Am J Ophthalmol 2000, 803-812.
113. Kirkman M., Yu-Wai-Man P., Korsten A., et al. Gene-environment interactions in Leber hereditary optic neuropathy. Brain 2009, 132(Pt 9):2317-2326.
114. Kjer B., Eiberg H., Kjer P., et al. Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects. Acta Ophthal Scand 1996, 74:3-7.
115. Kjer P., Jensen O.A., Klinken L. Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy. Acta Ophthalmol 1983, 61:300-312.
116. Kjer P. Infantile optic atrophy with dominant mode of inheritance. A clinical and genetic study of 19 Danish families. Acta Ophthalmol 1959, 164(Suppl 54):1-147.
117. Kline L.B., Glaser J.S. Dominant optic atrophy-clinical profile. Arch Ophthalmol 1979, 97:1680-1686.
118. Koene S., Smeltink Mitochondrial medicine: entering the era of treatment. J Intern Med 2009, 265:193-209.
119. Koga Y., Akita Y., Junko N., et al. Endothelial dysfunction in MELAS improved by L-arginine supplementation. Neurology 2006, 66:1766-1769.
120. Koga Y., Akita Y., Nishioka J., et al. MELAS and L-arginine therapy. Mitochondrion 2007, 7:133-139.
121. Kyriakouli D.S., Boesch P., Taylor R.W., et al. Progress and prospects: gene therapy for mitochondrial DNA disease. Gene Ther 2008, 15:1017-1023.
122. Laird P.W., Mohney B.G., Renaud D.L. Bull's-eye maculopathy in an infant with Leigh disease. Am J Ophthalmol 2006, 142:186-187.
123. Lamminen T., Huoponen K., Sistonen P., et al. mtDNA haplotypes analysis in Finnish families with Leber hereditary optic neuropathy. Eur J Hum Genet 1997, 5:271-279.
124. Lang C.J.G., Brenner P., Heub D., et al. Neuropsychological status of mitochondrial encephalomyopathies. Eur J Neurol 1995, 2:171-176.
125. Lara M.C., Valentino M.L., Torres-Torronteras J., et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features and therapeutic approaches. Biosci Rep 2007, 27:151-163.
126. Larsson N.G., Andersen O., Holme E., et al. Leber's hereditary optic neuropathy and complex I deficiency in muscle. Ann Neurol 1991, 30:701-708.
127. Latkany P., Ciulla T.A., Cacchillo P.F., et al. Mitochondrial Maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation. Am J Ophthalmol 1999, 128:112-114.
128. Latvala T., Mustonen E., Uusitalo R., et al. Pigmentary retinopathy in patients with the MELAS mutation 3243A → G in mitochondrial DNA. Graefes Arch Clin Exp Ophthalmol 2002, 240:795-801.
129. Leber T. Ueber hereditaere und congenital-angelegte Sehnervenleiden. Graefes Arch Ophthalmol 1871, 17:249-291.
130. Lee A.G., Brazis P.W. Chronic progressive external ophthalmoplegia. Curr Neurol Neurosci Rep 2002, 2:413-417.
131. Lin C.M., Thajeb P. Valproic acid aggravates epilepsy due to MELAS in a patient with an A3243G mutation of mitochondrial DNA. Metab Brain Dis 2007, 22:105-109.
132. Lin D.D.M., Crawford T.O., Barker P.B. Proton MR spectroscopy in the diagnostic evaluation of suspected mitochondrial disease. AJNR 2003, 24:33-41.
133. Lodi R., Cooper J.M., Bradley J.L., et al. Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia. Proc Natl Acad Sci USA 1999, 96:11492-11495.
134. Loiseau D., Chevrollier A., Verny C., et al. Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease. Ann Neurol 2007, 61:315-323.
135. Longley M.J., Clark S., Yu Wai Man C., et al. Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Am J Hum Genet 2006, 78:1026-1034.
136. Luzhansky J.Z., Pierce A.B., Hoy J.F., et al. Leber's hereditary optic neuropathy in the setting of nucleoside analogue toxicity. AIDS 2001, 15:1588-1589.
137. Lyle W.M. Genetic Risks. A Reference for Eye Care Practitioners 1990, University of Waterloo Press, Waterloo, ON.
138. Macedo-Souza L.I., Kok F., Santos S., et al. Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13. Ann Neurol 2005, 57:730-737.
139. Mackey D.A., Buttery R.G. Leber hereditary optic neuropathy in Australia. Aust NZ J Opthalmol 1992, 20:177-184.
140. Macmillan C., Johns T.A., Fu K., et al. Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect. Am J Hum Genet 2000, 66:332-335.
141. Macmillan C., Kirkham T., Fu K., et al. Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy. Neurology 1998, 50:417-422.
142. Makela-Bengs P., Suomalainen A., Majander A., et al. Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome. Pediatr Res 1995, 37:634-639.
143. Man P.Y.W., Griffiths P.G., Brown D.T., et al. The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am J Hum Genet 2003, 72. 333-9.
144. Manfredi G., Fu J., Ojaimi J., et al. Rescue of an ATP synthesis deficiency in mtDNA-mutant human cells by transfer of MTATP6, a mtDNA-encoded gene, to the nucleus. Nat Genet 2002, 30:394-399.
145. Margineantu D.H., Gregory Cox W., Sundell L., et al. Cell cycle dependent morphology changes and associated mitochondrial DNA redistribution in mitochondria of human cell lines. Mitochondrion 2002, 1:425-435.
146. Margulis L. Genetic and evolutionary consequences of symbiosis. Exp Parasitol 1976, 39:277-349.
147. Mariotti C., Solari A., Torta D., et al. Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial. Neurology 2003, 60:1676-1679.
148. Mashima Y., Kimura I., Yamamoto Y., et al. Optic disc excavation in the atrophy stage of Leber's hereditary optic neuropathy: comparison with normal-tension glaucoma. Graefes Arch Clin Exp Ophthalmol 2003, 241:75-80.
149. Mashima Y., Yamada K., Wakakura M., et al. Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy. Curr Eye Res 1998, 17:403-408.
150. Massin P., Guillausseau P.J., Vialettes B., et al. Macular pattern dystrophy associated with a mutation of mitochondrial DNA. Am J Ophthalmol 1995, 120:247-248.
151. Massin P., Virally-Monod M., Vialettes B., et al. Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness. Ophthalmology 1999, 106:1821-1827.
152. McFarland R., Turnbull D.M. Batteries not included: diagnosis and management of mitochondrial disease. J Intern Med 2009, 265:210-228.
153. McKechnie N.M., King M., Lee W.R. Retinal pathology in Kearns-Sayre syndrome. Br J Ophthalmol 1985, 69:63-75.
154. Meire F.M., Van Coster R., Cochaux P., et al. Neurological disorders in members of families with Leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations. Ophthalmic Genet 1995, 16:119-126.
155. Michaelides M., Jenkins S.A., Bamiou D.-E., et al. Macular dystrophy associated with the A3243G mitochondrial DNA mutation: distinct retinal and associated features, disease variability, and characterization of asymptomatic family members. Arch Ophthalmol 2008, 126:320-328.
156. Milea D., Sander B., Wegener M., et al. Axonal loss occurs early in dominant optic atrophy. Acta Ophthalmol 2009, (Epub ahead of print).
157. Misaka T., Miyashita T., Kubo Y. Primary structure of a dynamin-related mouse mitochondrial GTPase and its distribution in brain, subcellular localization and effect on mitochondrial morphology. J Biol Chem 2002, 277:15834-15842.
158. Miyama S., Arimoto K., Kimiya S., et al. Complicated hereditary spastic paraplegia with peripheral neuropathy, optic atrophy, and mental retardation. Neuropediatrics 2000, 31:214-217.
159. Mochizuki H., Joh K., Kawame H., et al. Mitochondrial encephalomyopathies preceded by de-Toni-Debré-Fanconi syndrome or focal segmental glomerulosclerosis. Clin Nephrol 1996, 46:347-352.
160. Moraes C.T., DiMauro S., Zeviani M., et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 1989, 320:1293-1299.
161. Morikawa Y., Matsuura N., Kakudo K., et al. Pearson's marrow/pancreas syndrome: a histological and genetic study. Virchows Arch A Pathol Anat Histopathol 1993, 423:227-231.
162. Moslemi A.R., Melberg A., Holme E., et al. Autosomal dominant progressive external ophthalmoplegia: distribution of multiple mitochondrial DNA deletions. Neurology 1999, 53:79-84.
163. Murphy J.L., Blakely E.L., Shaefer A.M., et al. Resistance training in patients with single, large-scale deletions of mitochondrial DNA. Brain 2008, 131(Pt 11):2832-2840.
164. 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.
165. Nakamura M., Lin J., Ueno S., et al. Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy. Ophthalmology 2006, 113:483-488.
166. Newman N.J., Biousse V., David R., et al. Prophylaxis for second eye involvement in Leber hereditary optic neuropathy: an open-labeled, nonrandomized multicenter trial of topical brimonidine purite. Am J Ophthalmol 2005, 140:407-415.
167. Newman N.J., Biousse V., Newman S.A., et al. Progression of visual field defects in Leber hereditary optic neuropathy: experience of the LHON treatment trial. Am J Ophthalmol 2006, 141:1061-1067.
168. Newman N.J., Torroni A., Brown M.D., et al. Epidemic neuropathy in Cuba not associated with mitochondrial DNA mutations found in Leber's hereditary optic neuropathy patients. Am J Ophthalmol 1994, 118:158-168.
169. Newman N.J. Hereditary optic neuropathies: from mitochondria to the optic nerve. Am J Ophthalmol 2005, 140:517-523.
170. Newman N.J. Leber hereditary optic neuropathy: bad habits, bad vision?. Brain 2009, 132(Pt 9):2306-2308.
171. Newman N.J. Hereditary optic neuropathies. Walsh & Hoyt's Clinical Neuro-ophthalmology 2005, 465-501. Williams & Willkins, Baltimore, MD. ed 6. N.R. Miller, N.J. Newman, V. Biousse, J.B. Kerrison (Eds.).
172. Nikoskelainen E.K., Huopnen K., Juvonen V., et al. Ophthalmoscopic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmology 1996, 103:504-514.
173. Nishino I., Spinazzola A., Papadimitriou A., et al. Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol 2000, 47:792-800.
174. Ohkoshi N., Ishii A., Shiraiwa N., et al. Dysfunction of the hypothalamic-pituitary system in mitochondrial encephalomyopathies. J Med 1998, 29:13-29.
175. Oldfors A., Fyhr I.M., Holme E., et al. Neuropathology in Kearns-Sayre syndrome. Acta Neuropathol 1990, 80:541-546.
176. Olichon A., Baricault L., Gas N., et al. Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis. J Biol Chem 2003, 278:7743-7746.
177. Olichon A., Emorine L.J., Descoins E., et al. The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inner-membrane space. FEBS Lett 2002, 523:171-176.
178. Olichon A., Landes T., Arnaune-Pelloquin L., et al. Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis. J Cell Physiol 2007, 211:423-430.
179. Olsen R.K., Olpin S.E., Andresen B.S., et al. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 2007, 130:2045-2054.
180. Oppenheim C., Ganalaud D., Samson Y., et al. Can diffusion weighted magnetic resonance imaging help differentiate stroke from stroke-like events in MELAS?. J Neurol Neurosurg Psychiatr 2000, 69:248-250.
181. Ortiz R.G., Newman N.J., Shoffner J.M., et al. Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation. Arch Ophthalmol 1993, 111:1525-1530.
182. Pavlakis SG, Phillips PC, DiMauro S, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol. 16:481-88.
183. Pesch U.E., Fries J.E., Bette S., et al. OPA1, the disease gene for autosomal dominant optic atrophy, is specifically expressed in ganglion cells and intrinsic neurons of the retina. Invest Ophthalmol Visual Sci 2004, 45:4217-4225.
184. Phillips P.H., Newman N.J. Mitochondrial diseases in pediatric ophthalmology. J AAPOS 1997, 1:115-122.
185. Pott J.W.R., Wong K.H. Leber's hereditary optic neuropathy and vitamin B12 deficiency. Graefe's Arch Clin Exp Ophthalmol 2006, 244:1357-1359.
186. Puomila A., Hamalainen P., Kivioja S., et al. Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland. Eur J Hum Genet 2007, 15:1079-1089.
187. Puomila A., Huoponen K., Mantyjarvi M., et al. Dominant optic atrophy: correlation between clinical and molecular genetic studies. Acta Ophthalmol Scandinavica 2005, 83:337-346.
188. Qi X., Lewin A.S., Sun L., et al. SOD2 gene transfer protects against optic neuropathy induced by deficiency of complex I. Ann Neurol 2004, 56:182-191.
189. Qi X., Sun L., Hauswirth W.W., et al. Use of mitochondrial antioxidant defenses for rescue of cells with a Leber hereditary optic neuropathy-causing mutation. Arch Ophthalmol 2007, 125:268-272.
190. Qi X., Sun L., Lewin A.S., et al. Long-term suppression of neurodegeneration in chronic experimental optic neuritis: antioxidant gene therapy. Invest Ophthalmol Vis Sci 2007, 48:5360-5370.
191. Ramos Cdo V., Bellusci C., Savini G., et al. Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy. Invest Ophthalmol Vis Sci 2009, 50:1666-1674.
192. Rath P.P., Jenkins S., Michaelides M., et al. Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence. Br J Ophthalmol 2008, 92:623-629.
193. Reynier P., Amati-Bonneau P., Verny C., et al. OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. J Med Genet 2004, 41:e110.
194. Riordan-Eva P., Harding E.A. Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations. J Med Genet 1995, 32:81-87.
195. Riordan-Eva P., Sanders M.D., Govan G.G., 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.
196. Riordan-Eva P. Neuro-ophthalmology of mitochondrial diseases. Curr Op Ophthalmol 2000, 11:408-412.
197. Rodriguez M.C., MacDonald J.R., Mahoney D.J., et al. Beneficial effects of creatine, CoQ10, and lipoic acid in mitochondrial disorders. Muscle Nerve 2007, 35:235-242.
198. Rotig A., Appelkvist E.L., Geromel V., et al. Quinone-responsive multiple respiratory chain dysfunction due to widespread coenzyme Q10 deficiency. Lancet 2000, 356:391-395.
199. Rotig A., Cormier V., Blanche S., et al. Pearson's marrow-pancreas syndrome: a multisystem mitochondrial disorder in infancy. J Clin Invest 1990, 86:1601-1608.
200. Sadun A.A., Carelli V., Salomao S.R., et al. Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy. Am J Ophthalmol 2003, 136:231-238.
201. Sadun A.A., Salomao S.R., Berezovsky A., et al. Subclinical carriers and conversions in Leber hereditary optic neuropathy: a prospective psychophysical study. Trans Am Ophthalmol Soc 2006, 104:51-61.
202. Savini G., Barboni P., Valentino M.L., et al. Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber's hereditary optic neuropathy mutations. Ophthalmology 2005, 112:127-131.
203. Schlaug G., Siewert B., Benfield A., et al. Time course of the apparent diffusion coefficient (ADC) abnormality in human stroke. Neurology 1997, 49:113-119.
204. Schon E.A., Rizzuto R., Moraes C.T., et al. A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. Science 1989, 244:346-349.
205. Sgarbi G., Casalena G.A., Baracca A., et al. Human NARP mitochondrial mutation metabolism corrected with α-ketoglutarate/aspartate. Arch Neurol 2009, 66:951-957.
206. Shaefer A.M., Taylor R.W., Turnbull D.M., et al. The epidemiology of mitochondrial disorders: past, present, and future. Biochimica et Biophysica Acta 2004, 1659:115-120.
207. Shan Y., Napoli E., Cortopassi G. Mitochondrial frataxin interacts with IDS11 of the NFS1/ISCU complex and multiple mitochondrial chaperones. Hum Mol Genet 2007, 16:929-941.
208. Shankar S.P., Fingert J.H., Carelli V., et al. Evidence for a novel x-linked modifier locus for Leber hereditary optic neuropathy. Ophthalmic Genet 2008, 29:17-24.
209. Shanske S., Pancrudo J., Kaufmann P., et al. Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis. Am J Med Genet 2004, 130A:134-137.
210. Shanske S., Tang Y., Hirano M., et al. Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with Pearson syndrome. Am J Hum Genet 2002, 71:679-683.
211. Shimizu S., Mori N., Kishi M., et al. A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy. Am J Ophthalmol 2003, 135:256-257.
212. Sinnathuray A.R., Raut V., Awa A., et al. A review of cochlear implantation in mitochondrial sensorineural hearing loss. Otol Neurotol 2003, 24:418-426.
213. Smith P.R., Bain S.R., Good P.A., et al. Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNAleu A to G mutation. Ophthalmology 1999, 106:1101-1108.
214. Soejima K., Sakurai H., Nozaki M., et al. Surgical treatment of blepharoptosis caused by chronic progressive external ophthalmoplegia. Ann Plast Surg 2006, 56:439-442.
215. Spelbrink J.N., Li F.Y., Tiranti V., et al. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet 2001, 28:223-231.
216. Sproule D.M., Kaufmann P., Engelstad K., et al. Wolff-Parkinson-White syndrome in patients with MELAS. Arch Neurol 2007, 64:1625-1627.
217. Sproule D.M., Kaufmann P. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome. Ann NY Acad Sci 2008, 1142:133-158.
218. Spruijt L., Kolback D.N., de Coo R.F., et al. Influence of mutation type on clinical expression of Leber hereditary optic neuropathy. Am J Ophthalmol 2006, 141:676-682.
219. Stachowiak O., Dolder M., Wallimann T., et al. Mitochondrial creatine kinase is a prime target of peroxynitrite-nduced modification and inactivation. J Biol Chem 1998, 273:16694-16699.
220. Stelmack J.A., Tang X.C., Reda D.J., et al. Outcomes of the Veterans Affairs Low Vision Intervention Trial (LOVIT). Arch Ophthalmol 2008, 126:608-617. LOVIT Study Group.
221. Stewart J.D., Hudson G., Yu-Wai-Man P., et al. OPA1 in multiple mitochondrial deletion disorders. Neurology 2008, 71:1829-1831.
222. Stone E.M., Newman N.J., Miller N.R., et al. Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation. J Clin Neuroophthalmol 1992, 12:10-14.
223. Sutovsky P., Moreno R.D., Ramalho-Santos J., et al. Ubiquitin tag for sperm mitochondria. Nature 1999, 402:371-372.
224. Tachibana M., Sparman M., Sritanaudomchai H., et al. Mitochondrial gene replacement in primate offspring and embryonic stem cells. Nature 2009, 461:367-372.
225. Taivassalo T., Haller R.G. Exercise and training in mitochondrial myopathies. Med Sci Sports Exerc 2005, 37:2094-2101.
226. 2+ concentration in the endoplasmic reticulum. FEBS Lett 2006, 580:5635-5640.
227. Tan G., Napoli E., Taroni F., et al. Decreased expression of genes involved in sulfur amino acid metabolism in frataxin deficient cells. Hum Mol Genet 2003, 12:1699-1711.
228. Tanaka M., Borgeld H.J., Zhang J., et al. Gene therapy for mitochondrial disease by delivering restriction endonuclease SmaI into mitochondria. J Biomed Sci 2002, 9:534-541.
229. Tarnopolsky M.A. The mitochondrial cocktail: rationale for combined nutraceutical therapy in mitochondrial cytopathies. Adv Drug Deliv Rev 2008, 60:1561-1567.
230. Tein I., De Vivo D.C., Bierman F., et al. Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy. Pediatr Res 1990, 28:247-255.
231. Thambisetty M., Newman N.J., Glass J.D., et al. A practical approach to the diagnosis and management of MELAS: case report and review. The Neurologist 2002, 8:302-312.
232. Thambisetty M., Newman N.J. Diagnosis and management of MELAS. Expert Rev Mol Diagn 2004, 4:631-644.
233. Thiselton D.L., Alexander C., Morris A., et al. A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect. Hum Genet 2001, 109:498-502.
234. Thiselton D.L., Alexander C., Taanman J.-W., et al. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. Invest Ophthalmol Vis Sci 2002, 43:1715-1724.
235. Toomes C., Marchbank N.J., Mackey D.A., et al. Spectrum, frequency, and penetrance of OPA1 mutations in dominant optic atrophy. Hum Mol Genet 2001, 10:1369-1378.
236. Tsao C.Y., Mendell J.R., Bartholomew D. High mitochondrial DNA T8993G mutation (<90%) without typical features of Leighs and NARP syndromes. J Child Neurol 2001, 16:533-535.
237. Tsao K., Aitken P.A., Johns D.R. Smoking as an aetiological factor in a pedigree with Leber's hereditary optic neuropathy. Br J Ophthalmol 1999, 83:577-581.
238. Ueda K., Kawano J., Takeda K., et al. Endoplasmic reticulum stress induces Wfs1 gene expression in pancreatic beta-cells via transcriptional activation. Eur J Endocrinol 2005, 153:167-176.
239. Valentino M.L., Barboni P., Ghelli A., et al. The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy. Ann Neurol 2004, 56:631-641.
240. Van Goethem G., Dermaut B., Lofgren A., et al. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 2001, 28:211-212.
241. Verny C., Amati-Bonneau P., Dubas F., et al. An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs. Revue Neurologique 2005, 161:451-454.
242. Votruba M., Fitzke F.W., Holder G.E., et al. Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. Arch Ophthalmol 1998, 116:351-358.
243. Votruba M., Thiselton D., Bhattacharya S.S. Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy. Br J Ophthalmol 2003, 87:48-53.
244. Wallace D.C., Singh G., Lott M.T., et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988, 242:1427-1430.
245. Wallace D.C. A new manifestation of Leber's disease and a new explanation for the agency responsible for its unusual pattern of inheritance. Brain 1970, 93:121-132.
246. Wallace D.C. Mitochondrial defects in cardiomyopathy and neuromuscular disease. Am Heart J 2000, 139:S70-S85.
247. Wallace D.C. Mitochondrial diseases in man and mouse. Science 1999, 283:1482-1488.
248. Wallace D.K., Sprunger D.T., Helveston E.M., Ellis F.D. Surgical management of strabismus associated with chronic progressive external ophthalmoplegia. Ophthalmology 1997, 104:695-700.
249. Welzing L., von Kleist-Retzow J.C., Kribs A., et al. Rapid development of life-threatening complete atrioventricular block in Kearns-Sayre syndrome. Eur J Pediatr 2009, 168:757-759.
250. White S.L., Collins V.R., Wolfe R., et al. Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993. Am J Hum Genet 1999, 65:474-482.
251. Wolfram D.J., Wagener H.P. Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clin Proc 1938, 13:715-718.
252. Wong A., Tang J., Cavadini P., et al. The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis. Hum Mol Genet 1999, 8:425-430.
253. Wong L.J. Pathogenic mitochondrial DNA mutations in protein-coding genes. Muscle Nerve 2007, 36:279-293.
254. Yamashita S., Nishino I., Nonaka I., Goto Y. Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions. J Hum Genet 2008, 53:598-606.
255. Yen M.Y., Wang A.G., Chang W.L., et al. Leber's hereditary optic neuropathy: the spectrum of mitochondrial DNA mutations in Chinese patients. Jpn J Ophthalmol 2002, 46:45-51.
256. Yu-Wai-Man C.Y., Chinnery P.F., Griffiths P.G. Optic neuropathies-importance of spatial distribution of mitochondria as well as function. Med Hypotheses 2005, 65:1038-1042.
257. Yu-Wai-Man P., Griffiths P.G., Hudson G., Chinnery P.F. Inherited optic neuropathies. J Med Genet 2009, 46:145-158.
258. Zanna C., Ghelli A., Porcelli A.M., et al. OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. Brain 2008, 131:352-367.
259. Zeviani M., Di Donato S. Mitochondrial disorders. Brain 2004, 127:2153-2172.
260. Lys gene. Eur J Hum Genet 1993, 1:80-87.
261. Zeviani M. OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape. Brain 2008, 131:314-317.
262. Zuchner S., de Jonghe P., Jordanova A., et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol 2006, 59:276-281.
263. Zupanc M.L., Moraes C.T., Shanske S., et al. Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes. Ann Neurol 1991, 29:680-683.