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

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.