Clinical spectrum of leber's hereditary optic neuropathy

Clinical Neuroscience

Volumn 4, Issue 5, 1997, Pages 295-301

  Kerrison, John B ^a   Newman, Nancy J ^b  

^a JOHNS HOPKINS HOSPITAL   (United States)

^b EMORY EYE CENTER   (United States)

Author keywords

Hereditary optic neuropathy; Heteroplasmy; Leber; Mitochondria; Optic nerve

Indexed keywords

AMBLYOPIA; DEMYELINATING DISEASE; GENE MUTATION; GENETIC SUSCEPTIBILITY; GLAUCOMA; HEREDITARY OPTIC ATROPHY; HUMAN; MITOCHONDRION; NUTRITIONAL DEFICIENCY; PRIORITY JOURNAL; RESPIRATORY CHAIN; REVIEW; X CHROMOSOMAL INHERITANCE;

DNA, MITOCHONDRIAL; HUMANS; MITOCHONDRIA; OPTIC ATROPHIES, HEREDITARY; POINT MUTATION;

EID: 0030869088     PISSN: 10656766     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (81)

1. Adams JH, Blackwood W, Wilson J (1966): Further clinical pathological observations on Leber's optic atrophy. Brain 89:15-26.
2. 31P magnetic resonance spectroscopy in nonaffected carriers of 11778 mtDNA mutation. Neurology 45:1364-1369.
3. Bower SPC, Hawley I, Mackey DA (1992): Cardiac arrythmia and Leber's hereditary optic neuropathy. Lancet 339:1427-1428.
4. Brierly EJ, Griffiths PG, Weber K, Johnson MA, Turnbull DM (1996): Normal respiratory chain function in patients with low tension glaucoma. Arch Ophthalmol 114:142-146.
5. Bruyn GW, Bots GT, Went LN, Klinkhamer PJ (1992): Hereditary spastic dystonia with Leber's hereditary optic neuropathy: Neuropathological findings. J Neurol Sci 113:55-61.
6. Bu X, Rotter JI (1991): X-linked and mitochondrial gene control of Leber hereditary optic neuropathy (LHON): Evidence from segregation analysis for dependence on X chromosome inactivation. Proc Natl Acad Sci USA 88:8198-8202.
7. Carvalho MRS, Müller B, Rözer E, Berninger T, Kommerell G, Blankenagel A, Savontaus M-L, Meitinger T, Lorenz B (1992): Leber's hereditary optic neuroretinopathy and the X-chromosomal susceptibility factor: No linkage to DXS7. Hum Hered 42:316-320.
8. Chen JD, Cox I, Denton MJ (1989): Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis. Hum Genet 82(3):203-207.
9. Cortelli P, Montagna P, Avoni P, Sangiorgi S, Bresolin M, Moggio M, Zaniol P, Mantovani V, Barboni P, Barbiroli B, Ingaresi E (1991): Leber's hereditary optic neuropathy: Genetic, biochemical, and phosphorus magnetic resonance spectroscopy study in an Italian family. Neurology 41:1211-1215.
10. Cullom ME, Heher KL, Miller NR, Savino PJ, Johns DR (1993): Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia. Arch Ophthalmol 111:1482-1485.
11. DuBois LG, Feldon SE (1992): Evidence for a metabolic trigger for Leber's hereditary optic neuropathy. A case report. J Clin Neuro-Ophthalmol 12:15-16.
12. Egger J, Wilson J (1983): Mitochondrial inheritance in a mitochondrial mediated disease. N Engl J Med 309:142-146.
13. Erickson RP (1972): Leber's optic atrophy: A possible example of maternal inheritance. Am J Hum Genet 24:348-349.
14. Federico A, Manneschi L, Meloni M, Alessandrini C, Bardelli AM, Dotti MT, Sabatelli P (1988): Histochemical, ultrastructural, and biochemical study of muscle mitochondria in Leber's hereditary optic atrophy. J Inher Metab Dis 11 Suppl 2:193-197.
15. Flanigan KM, Johns DR (1993): Association of the 11778 mitochondrial DNA mutation and demyelinating disease. Neurology 43:2720-2722.
16. Funakawa I, Kato H, Terao A, Ichihashi K, Kawashima S, Hayashi T, Mitani K, Miyazaki S (1995): Cerebellar ataxia in patients with Leber's hereditary optic neuropathy. J Neurol 242:75-77.
17. Govan GG, Smith PR, Kellar-Wood H, Schapira AH, Harding AE (1994): HLA class II genoetypes in Leber's hereditary optic neuropathy. J. Neurol Sci 126(2): 193-6.
18. Harding AE, Sweeney MG, Miller DH, Mumford CJ, Kellar-Wood H, Menard D, McDonald WI, Compston DAS (1992): Occurence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation. Brain 115:979-989.
19. Harding AE, Sweeney MG, Govan GG, Riordan-Eva P (1995): Pedigree analysis in Leber hereditary optic neuropathy families with a pathologic mtDNA mutation. Am J Hum Genet 57:77-86.
20. Hirano M, Cleary JM, Stewart AM, Lincoff NS, Odel JG, Santiesteban R, Santiago Luis R (1994): Mitochondrial DNA mutations in an outbreak of optic neuropathy in Cuba. Neurology 44:843-845.
21. Howell N (1994a): Primary LHON mutations: Trying to separate "fruyt" from "chaf." Clin Neurosci 2:130-137.
22. Howell N, Bindoff LA, McCullough DA, Kubacka I, Poulton J, Mackey D, Taylor L, Turnbull DM (1991a): Leber hereditary optic neuropathy: Identification of the same mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet 49:939-950.
23. Howell N, Kubacka I, Xu M, McCullough DA (1991b): Leber hereditary optic neuropathy: Involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. Am J Hum Genet 48:935-942.
24. Howell N, Xu M, Halvorson S, BodisWollner I, Sherman J (1994b): A heteroplasmic LHON family: Tissue distribution and transmission of the 11778 mutation. Am J Hum Genet 55:203-206.
25. Huoponen K, Vilkki J, Aula P, Nikoskelainen EK, Savontaus ML (1991): A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet 48:1147-1153.
26. Johns DR, Neufeld MJ, Park RD (1992a): An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophys Res Commun 187:1551-1557.
27. Johns DR, Smith KH, Miller NR (1992b): Leber's hereditary optic neuropathy: Clinical manifestations of the 3460 mutation. Arch Ophthalmol 110:1577-1581.
28. Johns DR, Heher KL, Miller NR, Smith KH (1993a): Leber's hereditary optic neuropathy: Clinical manifestations of the 14484 mutation. Arch Ophthalmol 111: 495-498.
29. Johns DR, Smith KH, Miller NR, Sulewski ME, Bias WB (1993b): Identical twins who are discordant for Leber's hereditary optic neuropathy. Arch Ophthalmol 111:1491-1494.
30. Jun AS, Brown MD, Wallace DC (1994): A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci USA. 91:6206-6210.
31. Juoven V, Vikki J, Aula P, Nikoskelainen E, Savontaus ML (1993): Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber's hereditary optic neuroretinopathy (LHON). Am J Hum Genet 53:289-292.
32. Keller-Wood H, Robertson N, Govan GG, Compston DAS, Harding AE (1994): Leber's hereditary optic neuropathy mitochondrial mutations in multiple sclerosis. Ann Neurol 36:109-112.
33. Kerrison JB, Howell N, Miller NR, Hirst L, Green WR (1995): Leber hereditary optic neuropathy: Electron microscopy and molecular genetic analysis of a case. Ophthalmology 102:1509-1516.
34. Klein BE, Klein R, Sponsel WE, Franke T, Cantor LB, Martone J, Menage MJ (1992): Prevalence of glaucoma: The Beaver Dam Eye Study. Ophthalmology 99:1499-1504.
35. Kwittken J, Barest HD (1958): The neuropathology of hereditary optic atrophy (Leber's disease). The first complete anatomic study. Am J Pathol 34:185-207.
36. Larsson NG, Anderson O, Holme E, Oldfors A, Wahlstrom J (1991): Leber's hereditary optic neuropathy and complex I deficiency in muscle. Ann Neurol 30:701-708.
37. Lauer SA, Akerman J, Sunness J, Bluth EM, Kim CK (1985): Leber's optic atrophy with myopia masquerading as glaucoma: A case report. Ann Ophthalmol 17:146-148.
38. Lott MT, Voljavec AS, Wallace DC (1990): Variable genotype of Leber's hereditary optic neuropathy patients. Am J Ophthalmol 109:625-631.
39. Mackey DA (1994): Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy. Eye 8:431-436.
40. Mackey DA, Howell N (1992): A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. Am J Hum Genet 51:1218-1228.
41. Majander A, Huoponen K, Savontaus ML, Nikoskelainen EK, Wikstrom M (1991): Electron transfer properties of NADH: ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of Leber hereditary optic neuroretinopathy (LHON). FEBS Lett 292:289-292.
42. Mashima Y, Saga M, Hilda Y, Oguchi Y, Wakakura M, Kudoh J, Shimizu N (1995): Quantitative determination of heteroplasmy in Leber's hereditary optic neuropathy by single-strand conformation polymorphism. Invest Ophthalmol Vis Sci 36:1714-1720.
43. Mondelli M, Rossi A, Scarpini C, Dotti MT, Federico A (1990): BAEP changes in Leber's hereditary optic atrophy: Further confirmation of multisystem involvement. Acta Neurol Scand 81:349-353.
44. Mondelli M, Rossi A, Scarpini C, Dotti MT, Federico A (1991): Leber's optic atrophy: VEP and BAEP changes in 16 asymptomatic subjects. Acta Neurol Scand 84:366.
45. Nakamura M, Fujiwara Y, Yamamoto M (1993): The two locus control of Leber hereditary optic neuropathy and a high penetrance in Japanese pedigrees. Hum Genet 91:339-341.
46. Newman NJ (1993): Leber's hereditary optic neuropathy: New genetic considerations. Arch Neurol 50:540-548.
47. Newman NJ (1997): The hereditary optic neuropathies. In Miller NR, Newman NJ (eds): Walsh & Hoyt's Clinical NeuroOphthalmology, 5th edition. Baltimore: Williams & Wilkens (in press).
48. Newman NJ, Lott MT, Wallace DC (1991): The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol 111:750-762.
49. Newman NJ, Torroni A, Brown MD, Lott MT, Fernandez MM, Wallace DC (1994): Epidemic neuropathy in Cuban no associated with mitochondrial DNA mutations found in Leber's hereditary optic neuropathy patients. Am J Ophthalmol 118:158-168.
50. Nikoskelainen E, Hoyt WF, Nummelin K (1982a): Ophthalmoscopic findings in Leber's hereditary optic neuropathy. I. Fundus findings in asymptomatic family members. Arch Ophthalmol 100: 1597-1602.
51. Nikoskelainen E, Hoyt WF, Nummelin K (1982b): Ophthalmoscopic findings in Leber's hereditary optic neuropathy. II. Fundus findings in affected family members. Arch Ophthalmol 101:1059-1068.
52. Nikoskelainen E, Hassinen IE, Paljarvi L, Lang H, Kalimo H (1984a): Leber's hereditary optic neuroretinopathy, a mitochondrial disease? [letter]. Lancet 2:1474.
53. Nikoskelainen E, Hoyt WF, Nummelin K, Schatz H (1984b): Fundus findings in hereditary optic neuroretinopathy. III. Fluorescein angiographic studies. Arch Ophthalmol 102:981-989.
54. Nikoskelainen E, Wanne O, Dahl M (1985): Pre-excitation syndrome and Leber's hereditary optic neuroretinopathy [letter]. Lancet 1:696.
55. Nikoskelainen E, Savontaus ML, Wanne OP, Katila MJ, Nummelin KU (1987): Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees. Arch Ophthalmol 105:665-671.
56. Nikoskelainen EK, Savontaus ML, Huoponen K, Antila K, Hartiala J (1994): Pre-excitation syndrome in Leber's hereditary optic neuropathy [letter]. Lancet 344:857-858.
57. Nikoskelainen EK, Marttila RJ, Huoponen K, Juvonen V, Lamminen T, Sonninen P, Savontaus ML (1995): Leber's "plus": Neurologic abnormalities in patients with Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 59:160-164.
58. Nikoskelainen EK, Huoponen K, Juvonen V, Lamminen T, Nummelin K, Savontaus ML (1996): Ophthalmic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmology 103:504-514.
59. Nishimura M, Obayashi H, Ohta M, Uchiyama T, Hao Q, Saida T (1995): No association of the 11778 mitochondrial DNA mutation and multiple sclerosis in Japan. Neurology 45:1333-1334.
60. Novotny EJ, Singh G, Wallace DC, Dorfman LJ, Louis A, Sogg RL, Steinman L (1986): Leber's disease and dystonia. A mitochondrial disease. Neurology 36:1053-1060.
61. Olsen NK, Hansen AW, Norby S, Edal S, Jorgensen JR, Rosenberg T (1995): Leber's hereditary optic neuropathy associated with a disorder indistinguishable from multiple sclerosis in a male harbouring the mitochondrial DNA 11778 mutation. Acta Neurol Scand 91:326-329.
62. Oostra RJ, Bolhuis PA, Wijburg FA, Zorn-Ende G, Bleeker-Wagemakers EM (1994): Leber's hereditary optic neuropathy: Correlations between mitochondrial genotype and visual outcome. J Med Genet 31:280-286.
63. Ortiz RG, Newman NJ, Manoukian S, Diesenhouse MC, Lott MT, Wallace DC (1992): Optic disk cupping and electrocardiographic abnormalities in an American pedigree with Leber's hereditary optic neuropathy. Am J Ophthalmol 113:561-566.
64. Parkers WD Jr, Oley CA, Parks JK (1989): A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy. N Engl J Med 320:1331-1333.
65. Riordan-Eva P, Sanders MD, Govan GG, Sweeney MG, Da Costa J, Harding AE (1995): The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 118:319-337.
66. Rizzo JF 3rd (1995): Adenosine triphosphate deficiency: A genre of optic neuropathy. Neurology 45:11-16.
67. Sadun AA, Kashima Y, Wurdeman AE, Dao J, Heller K, Sherman J (1994): Morphological findings in the visual system in a case of Leber's hereditary optic neuropathy. Clin Neurosci 2:165-172.
68. Sadun AA, Sadun F (1996): Leber hereditary optic neuropathy [letter]. Ophthalmology 103(2):201-202.
69. Shoffner JM, Brown MD, Stutgard C, Jun AS, Pollock S, Haas RH, Kaufman A, Koontz D, Kim Y, Graham JR, Smith E, Dixon J, Wallace DC (1995): Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation. Ann Neurol 38:163-169.
70. Singh G, Lott MT, Wallace DC (1989): A mitochondrial DNA mutations as a cause of Leber's hereditary optic neuropathy. N Engl J Med 320:1300-1305.
71. Smith JL, Hoyt WF, Susac JO (1973): Ocular fundus in acute Leber optic neuropathy. Arch Ophthalmol 90:349-354.
72. Smith KH, Johns DR, Heher KL, Miller NR (1993): Heteroplasmy in Leber's hereditary optic neuropathy. Arch Ophthalmol 111:1486-1490.
73. Stone EM, Newman NJ, Miller NR, Johns DR, Lott MT, Wallace DC (1992): Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation. J Clin Neuro-Ophthalmol 12: 10-14.
74. Sweeney MG, Davis MB, Lashwood A, Brockington M, Toscano A, Harding AE (1992): Evidence against an X-linked locus close, to DXS7 determing visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy. Am J Hum Genet 51:741-748.
75. Toscano A, Harding AE, Gellera C, Vita G, Castagna I, Romeo G, Sweeney MG, Bresolin N, Zeviani M, Messina C (1992): Complex I multiple mitochondrial DNA mutations and biochemical deficiency in Leber's hereditary optic neuropathy. Neurology 42(Suppl 3):266.
76. Wakakura M, Yokoe J (1995): Evidence for preserved direct pupillary light response in Leber's hereditary optic neuropathy. Br J Ophthalmol 79:442-446.
77. Wallace DC (1970): A new manifestation of Leber's disease and a new explanation for the agency responsible for its unusual pattern of inheritance. Brain 93: 121-132.
78. Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ, Nikoskelainen EK (1988): Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242:1427-1430.
79. Wilson J (1963): Leber's hereditary optic atrophy - some clinical and etiological considerations. Brain 86:347-362.
80. van Senus AHC (1963): Leber's disease in the Netherlands. Doc Ophthalmol 17:1-163.
81. Vilkki J, Ott J, Savontaus ML, Aula P, Nikoskelainen EK (1991): Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7. Am J Hum Genet 48:486-491.