Visual Tract Integrity Before and After Gene Therapy in Congenital Achromatopsia.

ABSTRACT:

Purpose

CNGA3 achromatopsia is a rare hereditary syndrome caused by dysfunction of cone photoreceptors. Visual information is therefore obtained only by rod photoreceptors, resulting in low acuity, photoaversion, and color blindness. Trials using gene therapy have been initiated recently, in which clinical improvement was subtle.

Methods

To explain this suboptimal outcome, we used diffusion tensor imaging to assess visual pathway integrity in 3 CNGA3 achromatopsia patients before and after gene therapy, and compared them with 16 normally sighted adults.

Results

No significant differences from normal subjects in optic tract and radiation were detected. Fiber integrity reduction was observed in the occipitocallosal fibers. These differences showed some normalization aft

SUBMITTER: Abramovitch H 

PROVIDER: S-EPMC11804893 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature