Article
The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses.
Investigative ophthalmology & visual science - 1 Jan 2017
Majander Anna, João Catarina, Rider Andrew T, Henning G Bruce, Votruba Marcela, Moore Anthony T, Yu-Wai-Man Patrick, Stockman Andrew
Abstract excerpt
Purpose: Progressive retinal ganglion cell (RGC) loss is the pathological hallmark of autosomal dominant optic atrophy (DOA) caused by pathogenic OPA1 mutations. The aim of this study was to conduct an in-depth psychophysical study of the visual losses in DOA and to infer any selective vulnerability of visual pathways subserved by different RGC subtypes. Methods: We recruited 25 patients carrying pathogenic OPA1...
Topics
- Adolescent
- Adult
- Aged
- Color Perception
- Contrast Sensitivity
- DNA
- DNA Mutational Analysis
- Disease Progression
- Female
- Flicker Fusion
- GTP Phosphohydrolases
- Humans
- Male