Abstract: The disease burden of diabetic retinopathy (DR) is tremendous around the world. While DR is correlated with hemoglobin A1c (HbA1c) and duration of diabetes, genetic differences likely account for variation in susceptibility to DR. DR is a polygenic disorder with demonstrated heritability. However, linkage and admixture analyses, candidate gene association studies, and genome-wide association studies (GWAS) have not identified many loci for DR that can be consistently replicated. Larger, collaborative, multi-ethnic GWAS are needed to identify common variants with small effects. Rigorous defining of controls groups as patients with a long duration of diabetes without DR, and case groups as patients with severe DR will also aid in finding genes associated with DR. Replication in independent cohorts will be key to establishing associated loci for DR. Investigations of mitochondrial DNA and epigenetics in DR are ongoing. Whole exome sequencing presents new opportunities to identify rare variants that might be implicated in DR development. Continued research in the genetic epidemiology of DR is needed, with the potential to elucidate pathogenesis and treatment of an important disease.
Abstract: The Guangzhou Twin Eye Study (GTES) is a population-based study of young twins residing in Guangzhou City. The major aim of GTES is to explore the impact of genes, environmental factors and gene-environment interactions on common eye diseases. From 2006, for more than 1,300 twin pairs, age 7–26 years old, progressive ocular phenotypes, such as refraction, ocular biometrics, weight, and height were collected annually, while non-progressive phenotypes such as parental refraction, corneal thickness, retinal fundus, intraocular pressure and DNA only collected at baseline. In the current study, we summarize the major findings on the etiology of myopia in recent decades.
Abstract: Age-related macular degeneration (AMD) remains a leading cause of severe visual impairment in developing countries. Although dry-type AMD and geographic atrophy (GA) are progressive conditions with the associated decrease of visual functions, no well-established treatment regimen was proposed for the disease. Wet-type AMD is effectively treated with intravitreal anti-angiogenic agents, but frequent injections are a major issue for the affected patients. Recent advances in AMD genetics have provided new insights into the pathogenesis and novel therapeutic targets of AMD, but the benefits of using genetic testing and genotype-based risk models for AMD development and progression still lacks evidence. Novel AMD treatments aim to increase the interval among intravitreal injections through new therapeutic agents and modern delivery devices. Simultaneously, gene therapy for dry and wet AMD is widely studied. Although gene therapy possesses a major superiority over other novel treatments regarding a persistent cure of disease, many challenges exist in the way of its broad impact on the ocular health of AMD patients.
