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November 1993

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

Author Affiliations

From the Departments of Ophthalmology (Drs Ortiz and Newman), Neurology (Drs Newman, Shoffner, and Wallace), Neurosurgery (Dr Newman), Genetics and Molecular Medicine (Drs Shoffner, Kaufman, Koontz, and Wallace), and Pediatrics (Dr Wallace), Emory University School of Medicine, Atlanta, Ga, and the Department of Ophthalmology, Mayo Clinic, Rochester, Minn (Dr Ortiz). Dr Ortiz is currently in private practice in Miami, Fla.

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.