Volumetric brain analysis and associated retinal thinning in autosomal dominant optic atrophy plus syndrome

Motivation: Dominant optic atrophy plus patients have retinal thinning like in glaucoma patients that have associated structural atrophy of primary visual cortex. Goal(s): To evaluate the cerebral atrophy of DOA-plus patients compared with normal healthy group and analyse correlation between the retinal thinning and primary visual cortex atrophy. Approach: Recruited DOA-plus and normal healthy patients were examed with OCT test for retinal abnormality, imaged with 3T MRI and analyse the images using Freesurfer software for data including gray matter volume. Results: DOA-plus patients have significant cerebral atrophy, more pronounce at primary visual cortex with positive correlation between retinal thinning and primary visual cortex. Impact: For better understanding of structural brain change in DOA-plus patients and may help in the study of pathophysiology of primary visual cortex atrophy in DOA-plus patient by advanced MRI techniques.