Literature DB >> 33335345

Compressive Optic Neuropathy with a Concurrent Mutation of Leber's Hereditary Optic Neuropathy: A Case Report.

Yooyeon Park1, Kyong Ohn1, Ye Jin Ahn1, Jinhee Jang2, Shin Hae Park1.   

Abstract

Leber's hereditary optic neuropathy (LHON) is a mitochondrial genetic disease that leads to acute or subacute, painless, bilateral loss of vision, caused by degeneration of retinal ganglion cells that most affects men in their second or third decade of life. We describe a woman with compressive optic neuropathy with a concurrent LHON-associated mitochondrial mutation. Temporal hemifield defect connected to central scotoma and concurrent abduction limitation are diagnostic clues in identifying chiasmal compression with craniopharyngioma. This case emphasizes an awareness of the possible coexistence of compressive and hereditary optic neuropathy.
© 2020 Taylor & Francis Group, LLC.

Entities:  

Keywords:  Compressive optic neuropathy; Leber’s hereditary optic neuropathy; craniopharyngioma

Year:  2020        PMID: 33335345      PMCID: PMC7722701          DOI: 10.1080/01658107.2019.1703197

Source DB:  PubMed          Journal:  Neuroophthalmology        ISSN: 0165-8107


  13 in total

1.  A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology.

Authors:  D Mackey; N Howell
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

2.  Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland.

Authors:  Anu Puomila; Petra Hämäläinen; Sanna Kivioja; Marja-Liisa Savontaus; Satu Koivumäki; Kirsi Huoponen; Eeva Nikoskelainen
Journal:  Eur J Hum Genet       Date:  2007-04-04       Impact factor: 4.246

3.  A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

Authors:  K Huoponen; J Vilkki; P Aula; E K Nikoskelainen; M L Savontaus
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

4.  Secondary mutations of mitochondrial DNA in Japanese patients with Leber's hereditary optic neuropathy.

Authors:  M Matsumoto; S Hayasaka; C Kadoi; Y Hotta; K Fujiki; T Fujimaki; M Takeda; N Ishida; S Endo; A Kanai
Journal:  Ophthalmic Genet       Date:  1999-09       Impact factor: 1.803

5.  Mitochondrial DNA 3394 mutation in the NADH dehydrogenase subunit 1 associated with non-insulin-dependent diabetes mellitus.

Authors:  M Hirai; S Suzuki; M Onoda; Y Hinokio; L Ai; A Hirai; M Ohtomo; K Komatsu; S Kasuga; Y Satoh; H Akai; T Toyota
Journal:  Biochem Biophys Res Commun       Date:  1996-02-27       Impact factor: 3.575

Review 6.  Craniopharyngioma.

Authors:  Hermann L Müller
Journal:  Endocr Rev       Date:  2014-01-27       Impact factor: 19.871

7.  Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON).

Authors:  A Majander; K Huoponen; M L Savontaus; E Nikoskelainen; M Wikström
Journal:  FEBS Lett       Date:  1991-11-04       Impact factor: 4.124

8.  Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation.

Authors:  Min Liang; Minqiang Guan; Fuxing Zhao; Xiangtian Zhou; Meixia Yuan; Yi Tong; Li Yang; Qi-Ping Wei; Yan-Hong Sun; Fan Lu; Jia Qu; Min-Xin Guan
Journal:  Biochem Biophys Res Commun       Date:  2009-03-24       Impact factor: 3.575

9.  Enhanced tumorigenicity by mitochondrial DNA mild mutations.

Authors:  Alberto Cruz-Bermúdez; Carmen G Vallejo; Ramiro J Vicente-Blanco; María Esther Gallardo; Miguel Ángel Fernández-Moreno; Miguel Quintanilla; Rafael Garesse
Journal:  Oncotarget       Date:  2015-05-30

10.  A retrospective analysis of characteristics of visual field damage in patients with Leber's hereditary optic neuropathy.

Authors:  Ruijin Ran; Shuo Yang; Heng He; Shiqi Ma; Zhiqi Chen; Bin Li
Journal:  Springerplus       Date:  2016-06-23
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