1. Adaptive Optics Scanning Laser Ophthalmoscopy Images Demonstrate Abnormal Cone Structure in a Family with the Mitochondrial DNA T8993C Mutation

    Purpose: To study the effect of mitochondrial DNA (mtDNA) mutation T8993C on cone structure in a family expressing neurogenic muscle weakness, ataxia, retinitis pigmentosa (NARP) syndrome. Methods: Five family members were studied, using clinical examination, nerve conduction studies, perimetry, optical coherence tomography (OCT) measures of central retinal thickness and electroretinography. High-resolution images of cone structure using adaptive optics scanning laser ophthalmoscopy (AOSLO) were obtained in 4 subjects with stable fixation. Cone spacing was compared to 18 age-similar normal subjects and converted to Z-scores at each location where unambiguous cones were identified. Tissue levels of T8993C mutant heteroplasmy in blood and ...

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