NARP Syndrome 525j96f 525j96f 525j96f 525j96f 525j96f 525j96f
General: Neurogenic weakness (N), ataxia (A), and retinitis pigmentosa (RP) syndrome.
Ocular: Retinitis pigmentosa; bull's-eye maculopathy; salt-and-pepper retinopathy.
Clinical: NARP syndrome patients develop ataxia, weakness, and have retinitis pigmentosa, causing gradual visual field constriction.
Choweres I, et al. Cone and rod dysfunction in the NARP syndrome. Br J Ophthalmol 1999; 83:190-l93.
Holt IJ, et al. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990; 46:428-433.
Kerrison JB, Biousse V, Newman NJ. Retmopathy of NARP syndrome. Arch Ophthalmol 2000; 118:298.
Ortiz, et al. Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation. Arch Ophthalmol 1993; 111:1525-l530.
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