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Pigmentary retinopathy associated with the mitochondrial DNA 3243 point mutation

From the Departments of Neurology (Drs. Sue, Crimmins, and Morris) and Ophthalmology (Drs. Mitchell and Moshegov), the University of Sydney, Westmead Hospital, Sydney, Australia; and the Neuromuscular Research Centre (Dr. Byrne), University of Melbourne, Melbourne, Australia.

Address correspondence and reprint requests to Prof. John Morris, Department of Neurology, Level A4b, Westmead Hospital, Darcy Road, Westmead, Sydney, Australia, 2145.

Fourteen patients from four unrelated families were studied to determine the prevalence of retinal pigmentary abnormalities associated with the MELAS A to G 3243 point mutation. Neurologic and ophthalmic examinations, retinal photography, pattern shift visual evoked potentials, and electroretinography were performed in all patients. Eight of the 14 patients had retinal pigmentary abnormalities characterized by symmetric areas of depigmentation involving predominantly the posterior pole and midperipheral retina. None of the patients had optic atrophy and only one patient with pigmentary retinal abnormalities had impaired visual acuity. None of the diabetic subjects (n = 6) had signs of diabetic retinopathy. Fluorescein angiography demonstrated mottled hyper- and hypofluorescent areas indicating multiple window defects in the retinal pigmentary epithelium. Visual evoked potentials showed delayed P100 responses in four of the eight patients with retinal pigmentary abnormalities. We conclude that there is a high prevalence of retinal pigmentary abnormalities in patients with MELAS A to G 3243 point mutation. These abnormalities are usually asymptomatic and best detected by retinal photography.

Supported by the National Health and Medical Research Council of Australia.

Received February 17, 1997. Accepted in final form May 15, 1997.

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