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November 1993

Variable Retinal and Neurologic Manifestations in Patients Harboring the Mitochondrial DNA 8993 Mutation

Arch Ophthalmol. 1993;111(11):1525-1530. doi:10.1001/archopht.1993.01090110091031

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.