Determining Genetic Cause of Posterior Staphylomas in Eyes with Pathologic Myopia by Whole Exome Sequencing.

ABSTRACT:

Purpose

To identify genetic variants in posterior staphylomas in eyes with pathologic myopia using whole exome sequencing and to determine possible molecular mechanisms contributing to the pathogenesis.

Design

An observational, case-control study.

Participants

Two hundred sixty-four unrelated Japanese patients with myopia (≤ -0.50 diopters) and posterior staphyloma, which was diagnosed by ultra-widefield OCT, 3-dimensional magnetic resonance imaging, and Optos imaging.

Methods

Whole exome sequencing was performed on genomic DNA from peripheral blood. After variant filtering, the allelic frequencies were compared with control data obtained from East Asian subsets of the 1000 Genomes Project Phase III, the Exome Aggregation Consortium, and the Japanese Multi-Omic

SUBMITTER: Wang Z 

PROVIDER: S-EPMC12864665 | biostudies-literature | 2026 Mar

REPOSITORIES: biostudies-literature