Genotype-Phenotype Associations in an X-Linked Retinoschisis Patient Cohort: The Molecular Dynamic Insight and a Promising SD-OCT Indicator.

ABSTRACT:

Purpose

This study investigated a three-dimensional indicator in spectral-domain optical coherence tomography (SD-OCT) and established phenotype-genotype correlation in X-linked retinoschisis (XLRS).

Methods

Thirty-seven patients with XLRS underwent comprehensive ophthalmic examinations, including visual acuity (VA), fundus examination, electroretinogram (ERG), and SD-OCT. SD-OCT parameters of central foveal thickness (CFT), cyst cavity volume (CCV), and photoreceptor outer segment length were assessed. CCV was defined as the sum of the areas of cyst cavities in uential B-scans, measured automatically by self-developed software (OCT-CCSEG). Structural changes of the protein associated with missense variants were quantified by molecular dynamics (MD). The correlation between

SUBMITTER: Wei X 

PROVIDER: S-EPMC10854265 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature