Novel Myopia Genes and Pathways Identified From Syndromic Forms of Myopia.

ABSTRACT:

Purpose

To test the hypothesis that genes known to cause clinical syndromes featuring myopia also harbor polymorphisms contributing to nonsyndromic refractive errors.

Methods

Clinical phenotypes and syndromes that have refractive errors as a recognized feature were identified using the Online Mendelian Inheritance in Man (OMIM) database. One hundred fifty-four unique causative genes were identified, of which 119 were specifically linked with myopia and 114 represented syndromic myopia (i.e., myopia and at least one other clinical feature). Myopia was the only refractive error listed for 98 genes and hyperopia and the only refractive error noted for 28 genes, with the remaining 28 genes linked to phenotypes with multiple forms of refractive error. Pathway analysis was carried

SUBMITTER: Flitcroft DI 

PROVIDER: S-EPMC5773233 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature