Developments in Ocular Genetics

Abstract

Purpose To highlight major advancements in ocular genetics from the year 2013. Design Literature review. Methods A literature search was conducted on PubMed to identify articles pertaining to genetic influences on human eye diseases. This review focuses on manuscripts published in print or online in the English language between January 1, 2013 and December 31, 2013. A total of 120 papers from 2013 were included in this review. Results Significant progress has been made in our understanding of the genetic basis of a broad group of ocular disorders, including glaucoma, age-related macular degeneration, cataract, diabetic retinopathy, keratoconus, Fuchs’ endothelial dystrophy, and refractive error. Conclusions The latest next-generation sequencing technologies have become extremely effective tools for identifying gene mutations associated with ocular disease. These technological advancements have also paved the way for utilization of genetic information in clinical practice, including disease diagnosis, prediction of treatment response and molecular interventions guided by gene-based knowledge.

Association of Interleukin-1 Gene Single Nucleotide Polymorphisms with Keratoconus in Chinese Han Population

“…26 Gene variations that alter gene function are more likely to influence phenotypic characteristics, such as the risk of disease. 27 Two SNPs in IL1B, rs1143627 and 32 Ethnic and geographical differences are widely known to be important in evaluating KC pathogenesis. However, the previous study only found rs2071376 in IL1A was associated with KC in Chinese.…”