VARIABLE RETINAL AND NEUROLOGIC MANIFESTATIONS IN PATIENTS HARBORING THE MITOCHONDRIAL-DNA 8993 MUTATION

Objective: Ophthalmologic and neurologic manifestations of the mitocho ndrial DNA mutation at position 8993 (MTATPNARP8993) are reported and compared with previously published reports of patients with the 8993 mutation and other mitochondrial disorders. Design: Pedigree analysis. Setting: University referral center. Patients: Eight subjects from tw o unrelated pedigrees that were positive for the mitochondrial DNA rep lacement mutation at nucleotide position 8993 were evaluated ophthalmo logically and neurologically. Results: Retinal abnormalities ranged fr om mild salt-and-pepper changes to severe retinitis pigmentosa-like ch anges with maculopathy. Neurologic manifestations were also highly var iable and ranged from migraine headaches to severe dementia and Leigh' s disease. Conclusions: The type and extent of retinal pigmentary chan ges and neurologic findings varied substantially, even among members o f the same family. These changes, although not specific for the MTATP NARP8993 mutation, are highly suggestive of mitochondrial disease.