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Narp syndrome


NARP Syndrome 757g67h 757g67h 757g67h 757g67h 757g67h 757g67h

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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