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Research Article

Leber’s hereditary optic neuropathy A report of two unusual cases

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Pages 239-244 | Published online: 08 Jul 2009

References

  • Van Senus AHC. Leber's disease in the Netherlands. Doc Ophthalmol 1963;17:1–161.
  • 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.
  • Johns DR, Heher KL, Miller NR, Smith KH. Leber�s hereditary optic neuropathy. Clinical manifestations of the 14484 mutation. Arch Ophthalmol 1993;111: 495–498.
  • Hotta Y, Fujiki K, Hayakawa M, Nakajima A, Kanai A, Mashima Y, Hiida Y, Shinoda K, Yamada K, Oguchi Y, Ishida M, Yanashima K, Wakakura M, Ishikawa S, Nakamura M, Sakai J, Yamamoto M, Hayashi T, Mitani I, Miyazaki S, Shimo-Oku M, Imachi J, Kuniyoshi N, Nagataki S, Isashiki Y, Ohba N. Clinical features of Japanese Leber�s hereditary optic neuropathy with 11778 mutation of mitochondrial DNA. Jpn J Ophthalmol 1995;39: 96–108.
  • Riordan-Eva P, Sanders MD, Govan GG, Sweeney MG, Da Costa J, Harding AE. The clinical features of Leber�s hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 1995;118:319–337.
  • Nikoskelainen EK, Marttila RJ, Huoponen K, Juvonen V, Lamminen T, Sonninen P, Savontaus ML. Leber�s 'plus': neurological abnormalities in patients with Leber�s hereditary optic neuropathy. J Neurol Neurosurg Psychiatr 1995;59:160–164.
  • Nikoskelainen EK, Huoponen K, Juvonen V, Lamminen T, Nummelin K, Savontaus ML. Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmology 1996;103:504–514.
  • Kamp Nielsen V, Pilgaard S. On the pathogenesis of Charcot-Marie-Tooth disease. Acta Orthop Scand 1972;43:4–18.
  • Harding AE. From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins. Brain 1995;118:809–818.
  • Ionasescu VV. X-linked Charcot- Marie-Tooth neuropathies: from clinical description to molecular genetics. Muscle Nerve 1995;18:267–275.
  • Tackmann W, Radii EW. Pattern shift visual evoked potentials in Charcot-Marie-Tooth disease, HMSN Type I. J Neurol 1980;224:71–74.
  • Biirki E. Ophthalmologische Befunde bei der neuralen Muskelatrophie Charcot-Marie-Tooth, HMSN Typ I. Klin Monatsbl Augenheilkd 1981;179:94–96.
  • Bird TD, Griep E. Pattern reversal visual evoked potentials. Studies in Charcot-Marie-Tooth hereditary neuropathy. Arch Neurol 1981;38:739–741.
  • Carroll WM, Jones SJ, Halliday AM. Visual evoked potential abnormalities in Charcot-Marie-Tooth disease and comparison with Friedreich's ataxia. J Neurol Sci 1983;61:123–133.
  • Gadoth N, Gordon CR, Bleich N, Pratt H. Three modality evoked potentials in Charcot-Marie-Tooth disease (HMSN-I). Brain Dev 1991;13:91–94.
  • Brihaye M, Nenquin-Klaassen E, Bertholet G. Atrophie musculaire neurogène du type Charcot-Marie- Tooth-Hoffman, associée a une atrophie optique bilatérale. Acta Neurol Psychiatr Belg 1956;56:3o2–312.
  • Hoyt WF. Charcot-Marie-Tooth disease with primary optic atrophy. Arch Ophthalmol 196o;64:925–928.
  • Alajouanine T, Castaigne P, Cambier J, Escourolle R. Maladie de Charcot-Marie. Etude anatomo-clinique d'une observation suivie pendant 65 ans. Presse Med 1967;75:2745-275o.
  • Herishanu Y. Bilateral optic atrophy in Charcot-Marie's muscular atrophy. Confin Neurol 1969;31:383–387.
  • Ippel EF, Wittebol-Post D, Jennekens FGI, Bijlsma JB. Genetic heterogeneity of hereditary motor and sensory neuropathy type VI. J Child Neurol 1995;10:459–463.
  • Chalmers RM, Bird AC, Harding AE. Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy. J Neurol Neurosurg Psychiatr 1996;60:195–196.
  • Bar M, Andres F, Timmerman V, Nelis ME, Van Broeckhoven C, Dichgans J. Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn2o5Ser mutation in the connexin 32 gene. J Neurol Neurosurg Psychiatr 1999;66:202–206.
  • McLeod JG, Low PA, Morgan JA. Charcot-Marie-Tooth disease with Leber optic atrophy. Neurology 1978;28:179–184.
  • McCluskey DJ, O'Connor PS, Sheehy JT. Leber's optic neuropathy and Charcot-Marie-Tooth disease. Report of a case. J Clin Neuro-Ophthalmol 1986;6:76–81.
  • Oostra RJ, Bolhuis PA, Wijburg FA, Zorn-Ende G, Bleeker-Wagemakers EM. Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome. J Med Genet 1994;31:280–286.
  • Bynke H, Bynke G, Rosenberg T. Is Leber's hereditary optic neuropathy a retinal disorder? Report of a case. Neuro-Ophthalmology 1996;16:115–123.
  • Zhu D, Economou EP, Antonarakis SE, Maumenee IH. Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy. Am J Med Genet 1992;42:173–179.

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