Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia.

ABSTRACT: High myopia is the most severe and pathological form of myopia. It occurs when the spherical refractive error exceeds -6.00 spherical diopters (SDs) or the axial length (AL) of the eye is greater than 26 mm. This article focuses on early-onset high myopia, an increasingly common condition that affects children under 10 years of age and can lead to other serious ocular pathologies. Through the genetic analysis of 21 families with early-onset high myopia, this study seeks to contribute to a better understanding of the role of genetics in this disease and to propose candidate genes. Whole-exome sequencing studies with a panel of genes known to be involved in the pathology were performed in families with inconclusive results: 3% of the variants found were classified as pathogenic, 6% were like

SUBMITTER: Sanchez-Cazorla E 

PROVIDER: S-EPMC10649067 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature