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Leber"s Inherited Optic Neuropathy: A Large Family

Year 2012, Volume: 37 Issue: 2, 121 - 124, 01.06.2012

Abstract

Leber's hereditary optic neuropathy characterized by loss of central vision is often seen in men and a maternally inherited disease. Here, admitted to our clinic with complaints of unilateral visual loss was diagnosed as Leber's hereditary optic neuropathy which was confirmed by the presence of a mutation at 3460G>A position.

References

  • Newman NJ. Hereditary optic neuropathies: from the mitochondria to the optic nerve. Am J Ophthalmol. 2005;140:517-23.
  • Biousse V, Newman NJ. Neuro-ophthalmology of mitochondrial diseases. Curr Opin Neurol. 2003;16:35-43.
  • Leo-Kottler B, Wissinger B. Leber's hereditary optic neuropathy Ophthalmologe. 2011 ;108:1179-92.
  • Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with LeberS hereditary optic neuropathy. Science. 1988; 242:1427-30.
  • P Y W Man, D M Turnbull, P F Chinnery. Leber hereditary optic neuropathy. J Med Genet. 2002; 39:162–169
  • Mascialino B, Leinonen M, Meier T. Meta-analysis of the prevalence of Leber hereditary optic neuropathy mtDNA mutations in Europe. Eur J Ophthalmol. 2012 May;22(3):461-5.
  • Erişim: http://neuromuscular.wustl.eduneuromuscular
  • Walsh and Hoyt’s Clinical Neuroophtalmology, 6th.Ed., Vol. 1, Chapter 11. 2005; 465-501
  • Walsh and Hoyt’s Clinical Neuroophtalmology, 6th.Ed., Vol. 3, Chapter 46, 2005; 2469-2511
  • Brown MD, Starikovskaya E, Derbeneva O, Hosseini S, Allen JC, Mikhailovskaya IE, et al. The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J. Hum Genet. 2002; 110:130-8.
  • Zakharova EIu, Rudenskaia GE, Karlova IZ, Adarcheva LS, Mikhaĭlova EN. Leber's hereditary optic neuropathy: DNA-diagnosis and clinico-genetic comparisons in 12 families. Zh Nevrol Psikhiatr Im S S Korsakova. 2003; 103:44-50.
  • Zhonghua Yi Xue Yi Chuan Xue Za Zhi. Clinical features and the mutation of Leber's hereditary optic neuropathy in Chinese patients. Article in Chinese. 2005; 22:334-6.
  • Mascialino B, Leinonen M, Meier T. Meta-analysis of the prevalence of Leber hereditary optic neuropathy mtDNA mutations in Europe. Eur J Ophthalmol. 2012; 22:461-5.
  • Liu XL, Zhou X, Zhou J, Zhao F, Zhang J, Li C, et al. Leber's hereditary optic neuropathy is associated with the T12338C mutation in mitochondrial ND5 gene in six Han Chinese families. Ophthalmology. 2011; 118:978-85.

Leber"in Herediter Optik Nöropatisi: Geniş Bir Aile

Year 2012, Volume: 37 Issue: 2, 121 - 124, 01.06.2012

Abstract

Leber"in Herediter Optik Nöropatisi (LHON) sıklıkla erkeklerde görülen ve santral görme kaybı ile karekterize maternal olarak kalıtılan bir hastalıktır. Burada tek taraflı görme kaybı yakınması ile kliniğimize başvuran ve mtDNA 3460G>A mutasyonu saptanarak LHON olarak kabul edilen bir olgu sunuyoruz.

References

  • Newman NJ. Hereditary optic neuropathies: from the mitochondria to the optic nerve. Am J Ophthalmol. 2005;140:517-23.
  • Biousse V, Newman NJ. Neuro-ophthalmology of mitochondrial diseases. Curr Opin Neurol. 2003;16:35-43.
  • Leo-Kottler B, Wissinger B. Leber's hereditary optic neuropathy Ophthalmologe. 2011 ;108:1179-92.
  • Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with LeberS hereditary optic neuropathy. Science. 1988; 242:1427-30.
  • P Y W Man, D M Turnbull, P F Chinnery. Leber hereditary optic neuropathy. J Med Genet. 2002; 39:162–169
  • Mascialino B, Leinonen M, Meier T. Meta-analysis of the prevalence of Leber hereditary optic neuropathy mtDNA mutations in Europe. Eur J Ophthalmol. 2012 May;22(3):461-5.
  • Erişim: http://neuromuscular.wustl.eduneuromuscular
  • Walsh and Hoyt’s Clinical Neuroophtalmology, 6th.Ed., Vol. 1, Chapter 11. 2005; 465-501
  • Walsh and Hoyt’s Clinical Neuroophtalmology, 6th.Ed., Vol. 3, Chapter 46, 2005; 2469-2511
  • Brown MD, Starikovskaya E, Derbeneva O, Hosseini S, Allen JC, Mikhailovskaya IE, et al. The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J. Hum Genet. 2002; 110:130-8.
  • Zakharova EIu, Rudenskaia GE, Karlova IZ, Adarcheva LS, Mikhaĭlova EN. Leber's hereditary optic neuropathy: DNA-diagnosis and clinico-genetic comparisons in 12 families. Zh Nevrol Psikhiatr Im S S Korsakova. 2003; 103:44-50.
  • Zhonghua Yi Xue Yi Chuan Xue Za Zhi. Clinical features and the mutation of Leber's hereditary optic neuropathy in Chinese patients. Article in Chinese. 2005; 22:334-6.
  • Mascialino B, Leinonen M, Meier T. Meta-analysis of the prevalence of Leber hereditary optic neuropathy mtDNA mutations in Europe. Eur J Ophthalmol. 2012; 22:461-5.
  • Liu XL, Zhou X, Zhou J, Zhao F, Zhang J, Li C, et al. Leber's hereditary optic neuropathy is associated with the T12338C mutation in mitochondrial ND5 gene in six Han Chinese families. Ophthalmology. 2011; 118:978-85.
There are 14 citations in total.

Details

Primary Language Turkish
Journal Section Research
Authors

Taylan Peköz This is me

Pınar Bengi Boz This is me

Filiz Koç This is me

Publication Date June 1, 2012
Published in Issue Year 2012 Volume: 37 Issue: 2

Cite

MLA Peköz, Taylan et al. “Leber"in Herediter Optik Nöropatisi: Geniş Bir Aile”. Cukurova Medical Journal, vol. 37, no. 2, 2012, pp. 121-4.