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.
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.
Authors: S L White; V R Collins; R Wolfe; M A Cleary; S Shanske; S DiMauro; H H Dahl; D R Thorburn Journal: Am J Hum Genet Date: 1999-08 Impact factor: 11.025
Authors: S L White; S Shanske; J J McGill; H Mountain; M T Geraghty; S DiMauro; H H Dahl; D R Thorburn Journal: J Inherit Metab Dis Date: 1999-12 Impact factor: 4.982