Literature DB >> 1532594

Evidence for a metabolic trigger for Leber's hereditary optic neuropathy. A case report.

L G DuBois1, S E Feldon.   

Abstract

A 9-year-old girl with recently diagnosed juvenile onset diabetes mellitus presented with signs and symptoms of bilateral optic neuropathy. Leber's hereditary optic neuropathy was suspected on the basis of a strong family history. Subsequent mitochondrial DNA testing was positive. Visual recovery occurred once the diabetes was well controlled. This case suggests that such metabolic compromise that occurs in diabetes may precipitate the clinical expression of Leber's optic neuropathy.

Entities:  

Mesh:

Substances:

Year:  1992        PMID: 1532594

Source DB:  PubMed          Journal:  J Clin Neuroophthalmol        ISSN: 0272-846X


  8 in total

Review 1.  Maternally inherited mitochondrial respiratory disorders: from pathogenetic principles to therapeutic implications.

Authors:  Martine Uittenbogaard; Anne Chiaramello
Journal:  Mol Genet Metab       Date:  2020-06-27       Impact factor: 4.797

Review 2.  Leber hereditary optic neuropathy.

Authors:  P Yu-Wai-Man; D M Turnbull; P F Chinnery
Journal:  J Med Genet       Date:  2002-03       Impact factor: 6.318

3.  Bilateral progressive visual loss in an epileptic, mentally retarded boy.

Authors:  Silvana Guerriero; Michele Vetrugno; Lorenza Ciracì; Lucia Artuso; Rosa Dell'aglio; Vittoria Petruzzella
Journal:  Middle East Afr J Ophthalmol       Date:  2011-01

4.  Leber's hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients.

Authors:  Konstantin Dimitriadis; Miriam Leonhardt; Patrick Yu-Wai-Man; Matthew Anthony Kirkman; Alex Korsten; Irenaeus F De Coo; Patrick Francis Chinnery; Thomas Klopstock
Journal:  Orphanet J Rare Dis       Date:  2014-10-23       Impact factor: 4.123

5.  Gene-environment interactions in Leber hereditary optic neuropathy.

Authors:  Matthew Anthony Kirkman; Patrick Yu-Wai-Man; Alex Korsten; Miriam Leonhardt; Konstantin Dimitriadis; Ireneaus F De Coo; Thomas Klopstock; Patrick Francis Chinnery
Journal:  Brain       Date:  2009-06-12       Impact factor: 13.501

6.  Leber Hereditary Optic Neuropathy Associated with Bilateral Macular Holes.

Authors:  Yoshiaki Shimada; Masayuki Horiguchi
Journal:  Neuroophthalmology       Date:  2016-03-09

7.  Development and validation of a novel PCR-RFLP based method for the detection of 3 primary mitochondrial mutations in Leber's hereditary optic neuropathy patients.

Authors:  Siobhan Eustace Ryan; Fergus Ryan; David Barton; Veronica O'Dwyer; Derek Neylan
Journal:  Eye Vis (Lond)       Date:  2015-10-25

Review 8.  Endocrine disorders in mitochondrial disease.

Authors:  Andrew M Schaefer; Mark Walker; Douglass M Turnbull; Robert W Taylor
Journal:  Mol Cell Endocrinol       Date:  2013-06-13       Impact factor: 4.102

  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.