A pedigree of Leber's hereditary optic: Neuropathy with visual loss in childhood, primarily in girls

Graefe's Archive for Clinical and Experimental Ophthalmology

Volumn 237, Issue 9, 1999, Pages 714-719

  Thieme, Hagen ^a   Wissinger, Bernd ^b   Jandeck, Claudia ^a   Christ Adler, Margot ^b   Kraus, Hannelore ^a   Kellner, Ulrich ^a   Foerster, Michael H ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

IDEBENONE; MITOCHONDRIAL DNA;

ADULT; APPETITE DISORDER; ARTICLE; CLINICAL ARTICLE; COLOR VISION DEFECT; EVOKED VISUAL RESPONSE; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC RISK; HEREDITARY OPTIC ATROPHY; HUMAN; LATENT PERIOD; MALE; MOLECULAR GENETICS; OPHTHALMOSCOPY; PEDIGREE; PRIORITY JOURNAL; SCHOOL CHILD; SEX DIFFERENCE; VISUAL ACUITY; VISUAL FIELD DEFECT; VISUAL IMPAIRMENT; VOMITING;

EID: 0032816392     PISSN: 0721832X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004170050301     Document Type: Article

References (27)

1. Black GCM, Morten K, Laborde A, Poulton J (1996) Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation. Br J Ophthalmol 80:915-917
2. Bourrat FX, Green WT, Graham EM, Sweeney MG, Morgan-Hugh JA, Sanders MD (1992) Late onset Leber's optic neuropathy: a case confused with ischemic optic neuropathy. Br J Ophthalmol 76:571-573
3. Bu X, Rotter JI (1991) 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 USA 88:8198-8202
4. Carvalho MR, Müller B, Rotzer E, Berninger T, Kommerell G, Blankenagel G, Savontaus ML, Meitinger T, Lorenz B (1992) Leber's hereditary optic neuropathy and the X-chromosomal susceptibility factor: no linkage to DXs7. Hum Hered 42:316-320
5. Chen JD, Cox I, Denton MJ (1989) Preliminary exclusion of an X-linked gene in Leber's optic atrophy by link-age analysis. Hum Genet 82:203-207
6. Christ-Adler M, Leo-Kottler B, Baumann B, Fauser S, Besch D, Zrenner E, Wissinger B (1999) The Tübingen LHON Study: molecular genetic analysis in 51 pedigrees from Germany and Switzerland. Neuroophthalmology (in press)
7. Harding AE, Sweeney MG, Govan GG, Riordan Eva P (1995) Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation. Am J Hum Genet 57:77-86
8. Harding GFA, Odom JV, Spileers W, Spekreijse H (1996) Standard for visual evoked potentials 1995. Vision Res 36 (21):3567-3572
9. Hotta Y, Hayakawa M, Fujiki K, Shinohara K, Sado K, Kanai A, Yanashima K (1993) An atypical Leber's hereditary optic neuropathy with the 11778 mutation. Br J Ophthalmol 77:748-750
10. Huoponen K, Vilkki J, Aula P, Nikoskelainen EK, Savontaus ML (1991) A new mtDNA mutation associated with Leber herditary optic neuroretinopathy. Am J Hum Genet 48:1147-1153
11. Johns DR, Neufeld MJ (1991) Cytochrome b mutations in Leber hereditary optic neuropathy. Biochem Biophys Res Commun 1991 181(3):1358-1364
12. Johns DR, Smith KH, Savino PJ, Miller NR (1993) Leber hereditary optic neuropathy. Clinical manifestation of the 15257 mutation. Ophthalmology 100:981-986
13. Juvonen V, Vilkki J, Aula P, Nikoskelainen E, Savontaus ML (1993) Re-evaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuropathy (LHON). Am J Hum Genet 53:289-292
14. Leber T (1871) Ueber hereditaere und kongenital angelegte Sehnervenleiden. Graefes Arch Ophthalmol 2:249-291
15. Leo Kottler B, Christ-Adler M, Baumann B, Zrenner E, Wissinger B (1996) Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND6 gene. Ger J Ophthalmol 5:233-240
16. Mackey DA (1993) Blindness in off-spring of women blinded by Leber's hereditary optic neuropathy. Lancet 341:1020-1021
17. Mackey DA (1994) Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy. Eye 8:431-436
18. 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
19. Mackey DA, Oostra RJ, Rosenberg T, Rosenberg T, Nikoskelainen E, Bronte-Stewart J, Poulton J, Harding AE, Govan G, Bolhuis PA, Norby S, Bleeker-Wagemakers EM, Savontaus ML, Chan C, Howell N (1996) Primary pathogenic mtDNA mutations in multi-generation pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet 59(2):481-485
20. Mashima Y, Hiida Y, Oguchi Y (1992) Remission of Leber's hereditary optic neuropathy with Idebenone. Lancet 340:368-369
21. Newman NJ (1993) Leber's hereditary optic neuropathy. New genetic considerations. Arch Neurol 50:540-548
22. 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
23. Oostra RJ, Bolhuis PA, Zorn-Ende I, de Kok-Nazaruk MM (1994) Leber's hereditary optic neuropathy: no evidence for primary or secondary pathogenecity of the 15257 mutation. Hum Genet 94(3):265-270
24. Oostra RJ, Kemp S, Bolhuis PA, Bleeker-Wagemakers EM (1996) No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers. Hum Genet 97:500-505
25. 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
26. 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 Neuroophthalmol 12:10-14
27. Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJD, Nikosklainen EK (1988) Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242:1427-1430