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October 1990

Mae III Positively Detects the Mitochondrial Mutation Associated With Type I Leber's Hereditary Optic Neuropathy

Author Affiliations

From the Departments of Ophthalmology (Drs Stone and Kardon and Mr Coppinger) and Biochemistry (Dr Donelson), The University of Iowa College of Medicine, The Howard Hughes Medical Institute, Iowa City.

Arch Ophthalmol. 1990;108(10):1417-1420. doi:10.1001/archopht.1990.01070120065030

• Leber's hereditary optic neuropathy is a blinding disease that usually causes acute or subacute central visual loss in adolescent and young adult males. In patients who lack a family history of a similar illness, Leber's disease has been a diagnosis of exclusion. The recent discovery of a specific mitochondrial mutation in many pedigrees affected with the disease has provided the basis for rapid molecular diagnosis of one genetic type of Leber's disease. We have developed a new method, based on a Mae III (Boehringer Mannheim Biochemicals, Indianapolis, Ind) restriction fragment length polymorphism, for detecting the Wallacetype Leber's mutation. The method has several advantages over the previously used SfaN I method that make it more suitable for use as a general laboratory test. We demonstrate the utility of this new test in the diagnosis of Leber's disease in a patient with no family history of visual loss.

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