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.
📌 3 Key Takeaways
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Objective & Hypothesis:Leber's hereditary optic neuropathy characterized by loss of central vision is often seen in men and a maternally inherited disease.
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Key Findings & Data:Leber's hereditary optic neuropathy characterized by loss of central vision is often seen in men and a maternally inherited disease.
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Conclusion & Impact: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.
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.
Özet
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.
PEKÖZ, T., BOZ, P. B., KOÇ, F. (2012). Leber"s Inherited Optic Neuropathy: A Large Family. Cukurova Medical Journal, Cilt: 37 - Sayı: 2, 121–124. https://ajindex.com/articles/57226
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.