Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation

Objective: Ophthalmologic and neurologic manifestations of the mitochondrial DNA mutation at position 8993 ( MTATP*NARP8993 ) 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 two unrelated pedigrees that were positive for the mitochondrial DNA replacement mutation at nucleotide position 8993 were evaluated ophthalmologically and neurologically. Results: Retinal abnormalities ranged from mild salt-and-pepper changes to severe retinitis pigmentosa—like changes with maculopathy. Neurologic manifestations were also highly variable and ranged from migraine headaches to severe dementia and Leigh's disease. Conclusions: The type and extent of retinal pigmentary changes and neurologic findings varied substantially, even among members of the same family. These changes, although not specific for the MTATP*NARP8993 mutation, are highly suggestive of mitochondrial disease.