Volumetric brain analysis and associated retinal thinning in autosomal dominant optic atrophy patients.

ABSTRACT:

Introduction

Dominant optic atrophy (DOA) is an inherited mitochondrial disorder characterized by retinal thinning and progressive visual loss. When accompanied by additional neurological or systemic features, such as progressive external ophthalmoplegia, myopathy, or deafness, it is classified as DOA-plus (DOA+). Although central nervous system involvement has been associated with cortical and cerebellar atrophy, specific regional patterns remain unclear. This study aimed to investigate cortical lobe alterations in DOA+ patients and examine the association between retinal thinning and structural changes in the primary visual cortex (V1).

Methods

Seven DOA+ patients and seven age- and sex-matched healthy controls underwent 3T brain MRI, including 3D T1-weighted imaging, and

SUBMITTER: Pajareeyapong P 

PROVIDER: S-EPMC12813304 | biostudies-literature | 2026 Mar

REPOSITORIES: biostudies-literature