Macular dytrophy, diabete, and deafne aociated with a large mitochondrial dma deletion

Purpoe: To report the mitochondrial DNA in a 17-year-old patient with diabete, deafne, cataract, and maculopathy. Method: Ophthalmologic examination, fluorecein angiography, and electroretinogram were performed. Detection of deletion wa analyzed by polymerae chain reaction and outhern blot, and creening for the A3243G mitochondrial DNA mutation wa performed. Reult: A hort fragment of approximately 8.5 kb correponding to deleted mitochondrial DNA wa detected. The A3243G mitochondrial DNA mutation wa not found. Concluion: A 7-kb heteroplamic deletion of the mitochondrial genome wa found in thi patient. No mitochondrial DNA deletion ha been reported previouly in aociation with macular dytrophy