Identification of pathogenic variants for the development of ultra-long axial length in myopic children.

ABSTRACT:

Purpose

Axial elongation is a key factor in myopia progression, yet its genetic basis remains incompletely understood. This study aims to identify pathogenic genetic variants associated with excessively elongated axial length in children.

Methods

This study included 56 children with axial lengths exceeding the normal range for their age group, and whole-exome sequencing (WES) was performed on their oral mucosal samples. Clinical evaluations included axial length measurement, refraction testing, and fundus photography to assess the degree of myopia and retinal changes. Co-segregation analysis was conducted in selected families (F#1, F#2, F#5) to validate the familial inheritance patterns of the variants.

Results

Fifteen children carried variants in genes including BBS2

SUBMITTER: Zhu Y 

PROVIDER: S-EPMC12629424 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature