Ocular Genetics

Dear  Colleagues,

Our understanding of the genetic basis of both monogenic and complex eye diseases has grown enormously over the past few years through advances in high-throughput analysis, extended functional investigations, cell-based studies, gene therapy, and patient-derived cellular and animal modeling. While many genes have been identified in connection with ocular disease, there are still many gaps in our knowledge in determining how these genes lead to eye disease and their subsequent clinical translation. The extent of genetic changes related to monogenic diseases is still not fully explored but will likely be further expanded through their examination in various ethnic groups and populations. In the case of complex disease, multiple genetic variants have been associated with disease, but defining causality is often lacking. Additionally, the understanding of the role of non-coding sequence variants through epigenetic modifications and the role of structural variants is still in its infancy in the context of searching for causes of eye diseases. The Special Issue entitled “Ocular Genetics” will focus on the identification of novel genetic changes and their functional validation through laboratory studies, including the use of pluripotent stem cells and state-of-the-art manipulation of the genome. This will be complemented by reports providing insight into novel mechanisms that may underpin either monogenic or complex eye diseases, as well as innovative treatment options bringing our current knowledge to the patient.

Prof. Dr. Paul N. Baird
Prof. Dr. Bernhard H.F. Weber
Guest Editors

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