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

doi:10.1001/archopht.1993.01090110091031

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Vol. 111 No. 11, November 1993

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

Rafael G. Ortiz, MD; Nancy J. Newman, MD; John M. Shoffner, MD; Allan E. Kaufman, PhD; Deborah A. Koontz, PhD; Douglas C. Wallace, PhD

Arch Ophthalmol. 1993;111(11):1525-1530.

Abstract

Objective
Ophthalmologic and neurologic manifestations of the mitochondrialDNA mutation at position 8993 (MTATP*NARP8993) are reportedand compared with previously published reports of patients withthe 8993 mutation and other mitochondrial disorders.

Design
Pedigree analysis.

Setting
University referral center.

Patients
Eight subjects from two unrelated pedigrees that were positivefor the mitochondrial DNA replacement mutation at nucleotideposition 8993 were evaluated ophthalmologically and neurologically.

Results
Retinal abnormalities ranged from mild salt-and-pepper changesto severe retinitis pigmentosa—like changes with maculopathy.Neurologic manifestations were also highly variable and rangedfrom migraine headaches to severe dementia and Leigh's disease.

Conclusions
The type and extent of retinal pigmentary changes and neurologicfindings varied substantially, even among members of the samefamily. These changes, although not specific for the MTATP*NARP8993mutation, are highly suggestive of mitochondrial disease.

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.

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