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

Purpose:

To report the mitochondrial DNA in a 17-year-old patient with diabetes, deafness, cataract, and maculopathy.

Method:

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.

Results:

A short fragment of approximately 8.5 kb corresponding to deleted mitochondrial DNA was detected. The A3243G mitochondrial DNA mutation was not found.

Conclusion:

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.