American Journal of Ophthalmology
Volume 137, Issue 2 , Pages 271-277 , February 2004

Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy

  • Federico Sadun, MD

      Affiliations

    • Ospedale S. Giovanni Evangelista, Tivoli, Italy (F.S.)
    • Corresponding Author InformationInquiries to Federico Sadun, MD, Centro Oftalmologico EUR, Viale Africa 28, 00144 Rome, Italy; fax (+39) 06-5910826;
    • ,
  • Anna Maria De Negri, MD

      Affiliations

    • Azienda Ospedaliera San Camillo-Forlanini, Rome, Italy (M.D.N.)
    • ,
  • Valerio Carelli, MD

      Affiliations

    • Dipartimento di Scienze Neurologiche, Universitá di Bologna, Bologna, Italy (V.C.)
    • ,
  • Solange R. Salomao, PhD

      Affiliations

    • Federal University of Sao Paulo, Sao Paulo, Brazil (S.R.S., A.B., R.A., M.M., A.P., R.B.)
    • ,
  • Adriana Berezovsky, PhD

      Affiliations

    • Federal University of Sao Paulo, Sao Paulo, Brazil (S.R.S., A.B., R.A., M.M., A.P., R.B.)
    • ,
  • Rafael Andrade, MD

      Affiliations

    • Federal University of Sao Paulo, Sao Paulo, Brazil (S.R.S., A.B., R.A., M.M., A.P., R.B.)
    • ,
  • Milton Moraes, MD

      Affiliations

    • Federal University of Sao Paulo, Sao Paulo, Brazil (S.R.S., A.B., R.A., M.M., A.P., R.B.)
    • ,
  • Angelo Passos, MD

      Affiliations

    • Federal University of Sao Paulo, Sao Paulo, Brazil (S.R.S., A.B., R.A., M.M., A.P., R.B.)
    • ,
  • Rubens Belfort, MD, PhD

      Affiliations

    • Federal University of Sao Paulo, Sao Paulo, Brazil (S.R.S., A.B., R.A., M.M., A.P., R.B.)
    • ,
  • Arlon Bastos Da Rosa, BS

      Affiliations

    • Centro Universitario do Espirito Santo, Colatina, Brazil (A.B.d.R.)
    • ,
  • Peter Quiros, MD

      Affiliations

    • Keck-USC School of Medicine and Doheny Eye Institute, Los Angeles, California (P.Q., A.A.S.)USA
    • ,
  • Alfredo A. Sadun, MD, PhD

      Affiliations

    • Keck-USC School of Medicine and Doheny Eye Institute, Los Angeles, California (P.Q., A.A.S.)USA

,Accepted 5 August 2003.

References 

  1. Newman NJ. Leber's optic neuropathy. In:  Miller NR,  Newman NJ editor. Walsh and Hoyt's clinical neuro-ophthalmology. Baltimore: Williams & Wilkins; 1998;p. 742–753
  2. Nikoskelainen EK. Clinical picture of LHON. Clin Neurosci. 1994;2:115–120
  3. Nikoskelainen EK, Hoytt WF, Nummelin K. Ophthalmscopic findings in Leber's hereditary optic neuropathy. II. The fundus findings in the affected family members. Arch Ophthalmol. 1983;101:1059–1068
  4. Ortiz RG, Newman NJ, Manoukian SV, Diesenhouse MC, Lott MT, Wallace DC. Optic disc cupping and electrocardiographic abnormalities in an American pedigree with Leber's hereditary optic neuropathy. Am J Ophthalmol. 1992;113:561–566
  5. 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
  6. Nikoskelainen E, Sogg RL, Rosenthal AR, et al.  The early phase in Leber's hereditary optic atrophy. Arch Ophthalmol. 1977;95:969–978
  7. Sadun AA, Carelli V, Salomao SR, et al.  A very large Brazilian pedigree with 11778 Leber's hereditary optic neuropathy. Trans Am Ophthalmol Soc. 2002;100:169–180
  8. Sadun AA, Carelli V, Salomao SR, et al.  Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber's hereditary optic neuropathy. Am J Ophthalmol. 2003;136:231–238
  9. Keltner JL, Johnson CA, Spurr JO, et al.  Baseline visual field profile of optic neuritis. The experience of the Optic Neuritis Treatment Trial. Arch Ophthalmol. 1993;111:231–234
  10. Gordon MO, Kass MA. The Ocular Hypertension Treatment Study (design and baseline description of participants). Arch Ophthalmol. 1999;117:573–583
  11. Torroni A, Petrozzi M, D'Urbano L, et al.  Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber's hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet. 1997;60:1107–1121
  12. Nikoskelainen EK, Huoponen K, Juvonen V, Lamminen T, Nummelin K, Savontaus ML. Ophthalmological findings in Leber's hereditary optic neuropathy with special reference to mtDNA mutations. Ophthalmology. 1996;103:504–515
  13. Yamada K, Oguchi Y, Hotta Y, et al.  Multicenter study on the frequency of the three primary mutation of mitochondrial DNA in Japanese pedigrees with Leber's Hereditary Optic Neuropathy (comparison with American and British counterparts). Neuroophthalmology. 1999;22:187–193
  14. Newman NJ, Lott MT, Wallace DC. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy. Am J Ophthalmol. 1991;111:750–762
  15. 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
  16. Carelli V, Giordano C, D'Amato G. Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction. Trends Genet. 2003;19:257–262
  17. Bu XD, Rotter JL. X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy (evidence from segregation analysis for dependence on X-chromosome inactivation). Proc Natl Acad Sci U S A. 1991;88:8198–8202
  18. Pegoraro E, Vettori A, Valentino ML, et al.  X-inactivation pattern in multiple tissues from two Leber's hereditary optic neuropathy (LHON) patients. Am J Med Genet. 2003;119A:37–40
  19. Radius RI, Maumenee AE. Optic atrophy and glaucomatous cupping. Am J Ophthalmol. 1978;85:145–153
  20. Trobe JD, Glaser JS, Cassady JC. Optic atrophy. Differential diagnosis by fundus observation alone. Arch Ophthalmol. 1980;98:1040–1045
  21. Mashima Y, Kimura I, Ohde H, et al.  Optic disc excavation in the atrophic stage of Leber's hereditary optic neuropathy (comparison with normal tension glaucoma). Graefes Arch Clin Exp Ophthalmol. 2003;241:75–80
  22. Votruba M, Thiselton D, Bhattacharya SS. Optic disc morphology of patients with OPA 1 autosomal dominant optic atrophy. Br J Ophthalmol. 2003;87:48–53
  23. Delettre C, Lenaers G, Griffoin JM, et al.  Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nature Genet. 2000;26:207–210
  24. 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
  25. Aunt T, Ocaka L, Ebenezer ND, et al.  A major marker for normal tension glaucoma (association with polymorphisms in the OPA 1 gene). Hum Genet. 2002;110:52–56
  26. Tezel G, Kolker AE, Wax MB, et al.  Parapapillary chorioretinal atrophy in patients with ocular hypertension. II. An evaluation of progressive changes. Arch Ophthalmol. 1997;115:1509–1514
  27. Fournier AV, Damji KF, Epstein DL, Pollock SC. Disc excavation in dominant optic atrophy. Differentiation from normal tension glaucoma. Ophthalmology. 2001;108:1595–1602
  28. Carelli V. Leber's hereditary optic neuropathy. In:  Schapira AHV,  Di Mauro S editor. Mitochondrial disorders in neurology 2, blue books of practical neurology. Boston: Butterworth-Heinemann; 2002;p. 115–142

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American Journal of Ophthalmology
Volume 137, Issue 2 , Pages 271-277 , February 2004

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