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.

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Mitochondria as Chi
Wallace
Genetics 2008;179:727-735.
FULL TEXT  

NARP MITOCHONDRIOPATHY: AN UNUSUAL CAUSE OF PROGRESSIVE MYOCLONIC EPILEPSY
Jung et al.
Neurology 2007;68:1429-1430.
FULL TEXT  

Rod Photoreceptor Function in Children With Mitochondrial Disorders
Cooper et al.
Arch Ophthalmol 2002;120:1055-1062.
ABSTRACT | FULL TEXT  

Retinopathy of NARP Syndrome
Kerrison et al.
Arch Ophthalmol 2000;118:298-298.
FULL TEXT  

Mitochondrial Diseases in Man and Mouse
Wallace
Science 1999;283:1482-1488.
ABSTRACT | FULL TEXT  

Cone and rod dysfunction in the NARP syndrome
Chowers et al.
Br. J. Ophthalmol. 1999;83:190-193.
ABSTRACT | FULL TEXT  

Calcium Homeostasis and Reactive Oxygen Species Production in Cells Transformed by Mitochondria from Individuals with Sporadic Alzheimer's Disease
Sheehan et al.
J. Neurosci. 1997;17:4612-4622.
ABSTRACT | FULL TEXT  

Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice
Sligh et al.
Proc. Natl. Acad. Sci. USA 2000;97:14461-14466.
ABSTRACT | FULL TEXT