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Photo Essay
February 2000

Retinopathy of NARP Syndrome

Arch Ophthalmol. 2000;118(2):298. doi:10.1001/archopht.118.2.298

IN A PATIENT with NARP (neurogenic weakness, ataxia, and retinitis pigmentosa) syndrome who was followed up for 8 years, we observed the retinopathy progress from a salt-and-pepper appearance to typical retinitis pigmentosa with diffuse peripheral bone spicule formation. At age 13 years, he developed ataxia, and analysis of muscle tissue revealed a mutation at mitochrondrial (mtDNA) nucleotide position 8993. At age 13 years, ophthalmoscopy disclosed salt-and-pepper retinopathy (Figure 1). At age 21 years, his visual fields had become markedly constricted, and ophthalmoscopy disclosed diffuse peripheral bone spicule formation, optic nerve pallor, and arterial attenuation in both eyes (Figure 2).