Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation
R. G. Ortiz, N. J. Newman, J. M. Shoffner, A. E. Kaufman, D. A. Koontz and D. C. Wallace
Department of Ophthalmology, Emory University School of Medicine, Atlanta, Ga.
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.
Mitochondria as Chi
Wallace
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