Eh. Souied et al., MACULAR DYSTROPHY, DIABETES, AND DEAFNESS ASSOCIATED WITH A LARGE MITOCHONDRIAL-DNA DELETION, American journal of ophthalmology, 125(1), 1998, pp. 100-103
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.