PMID: 9541117Apr 16, 1998Paper

Fuch's corneal dystrophy in a patient with mitochondrial DNA mutations

Journal of Medical Genetics
R L Albin

Abstract

A patient with Fuch's corneal dystrophy, sensorineural hearing loss, diabetes, cardiac conduction defects, ataxia, and hyperreflexia is described. Analysis of lymphocyte mitochondrial DNA showed missense mutations usually associated with Leber's hereditary optic neuropathy. The occurrence of Fuch's dystrophy in this patient and the biology of corneal endothelial cells suggest that mitochondrial defects could be the cause of Fuch's endothelial dystrophy.

References

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Citations

Mar 22, 2005·Cornea·Hunter K L YuenJohn D Gottsch
Aug 27, 1998·Journal of Medical Genetics·P F ChinneryR M Andrews
Sep 23, 2011·Ophthalmic Genetics·Shivani A KasbekarColin E Willoughby
Sep 24, 2004·American Journal of Medical Genetics. Part a·Satoko ShimizuJulia E Richards
Sep 27, 2018·Cornea·Takashi Miyai
Jan 30, 2018·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Mathieu F BakhoumStephen H Tsang
Jul 14, 2010·Expert Review of Ophthalmology·Allen O Eghrari, John D Gottsch
Apr 16, 2013·Expert Review of Ophthalmology·Benjamin W IliffJohn D Gottsch
Jan 6, 2000·Current Opinion in Ophthalmology·S K Gupta, W G Hodge
Jan 5, 2019·Molecular Diagnosis & Therapy·Jie ZhangDipika V Patel
May 22, 2020·Progress in Retinal and Eye Research·Stephan Ong ToneUla V Jurkunas

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