Consortium for Refractive Error and Myopia (CREAM): Vision, Mission, and Accomplishments

The Consortium for Refractive Error and Myopia (CREAM) is an international collaboration founded to increase knowledge on the genetic background of refractive error and myopia. The consortium was established in 2011 and consists of >50 studies from all over the world with epidemiological and genetic data on myopia endophenotypes. Due to these efforts, almost 200 genetic loci for refractive error and myopia have been identified. These genetic risk variants mostly carry low risk but are highly prevalent in the general population. The genetic loci are expressed in all retinal cell layers and play a role in different processes, e.g., in phototransduction or extracellular matrix remodeling. The work of CREAM over the years has implicated the major pathways in conferring susceptibility to myopia and supports the notion that myopia is caused by a light-dependent retina-to-sclera signaling cascade. The current genetic findings offer a world of new molecules involved in myopiagenesis. However, as the currently identified genetic loci explain only a fraction of the high heritability, further genetic advances are needed. It is recommended to expand large-scale, in-depth genetic studies using complementary big data analytics, to consider gene-environment effects by thorough measurements of environmental exposures, and to focus on subgroups with extreme phenotypes and high familial occurrence. Functional characterization of associated variants is simultaneously needed to bridge the knowledge gap between sequence variance and consequence for eye growth. The CREAM consortium will endeavor to play a pivotal role in these future developments.