Genetic Diseases of the Eye

"Since the publication of the Human Genome Project in 2001 and the development of Genome-Wide Association Studies (GWAS), there has been a major shift toward large-scale international collaboration in genetic eye disease research. Eye researchers involved in genetics have now joined forces with traditional epidemiologists to develop the field of genetic epidemiology. Whilst ophthalmic geneticists had focused on rare pathogenic variants (mutations) with strong effects, epidemiologists had focused on common gene variants with small (but additive) effects (see Figure 1). These two areas have now merged, identifying a spectrum of genetic variants that are rare, intermediate or common with strong, medium or mild pathogenicity"--