MACULAR DYSTROPHY, DIABETES, AND DEAFNESS ASSOCIATED WITH A LARGE MITOCHONDRIAL-DNA DELETION

PURPOSE: To report the mitochondrial DNA in a 17-year old patient with diabetes, deafness, cataract, and maculopathy. METHODS: Ophthalmologi c examination, fluorescein angiography, and electroretinogram were per formed. Detection of deletion was analyzed by polymerase chain reactio n and Southern blot, and screening for the A3243G mitochondrial DNA mu tation was performed. RESULTS: A short fragment of approximately 8.5 k b corresponding to deleted mitochondrial DNA was detected. The A3243G mitochondrial DNA mutation was not found. CONCLUSIONS: A 7-kb heteropl asmic deletion of the mitochondrial genome was found in this patient. No mitochondrial DNA deletion has been reported previously in associat ion with macular dystrophy.