Macular dystrophy, diabetes, and deafness associated with a large mitochondrial DNA deletion

American Journal of Ophthalmology
E H SouiedA Rötig

Abstract

To report the mitochondrial DNA in a 17-year-old patient with diabetes, deafness, cataract, and maculopathy. METHOD S: Ophthalmologic examination, fluorescein angiography, and electroretinogram were performed. Detection of deletion was analyzed by polymerase chain reaction and Southern blot, and screening for the A3243G mitochondrial DNA mutation was performed. A short fragment of approximately 8.5 kb corresponding to deleted mitochondrial DNA was detected. The A3243G mitochondrial DNA mutation was not found. A 7-kb heteroplasmic deletion of the mitochondrial genome was found in this patient. No mitochondrial DNA deletion has been reported previously in association with macular dystrophy.

Citations

May 7, 2014·Revue neurologique·A Rötig
Sep 17, 2009·Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft·T OppermannJ Hillenkamp
Apr 23, 2013·Biochemical Genetics·Yu DingPan Xu
Oct 2, 2001·American Journal of Medical Genetics·A Munnich, P Rustin
Apr 29, 1999·Human Mutation·N Fischel-Ghodsian
Aug 19, 2003·Ear and Hearing·Nathan Fischel-Ghodsian
Apr 25, 2001·Cell Death and Differentiation·C Richter
May 16, 2020·Annales d'endocrinologie·Anne-Gaëlle Decoux-PoullotNicolas Chevalier

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