The phenotypic presentation of retinal diseases is typically underpinned by the presence of genetic variation represented by either polymorphic changes, mutations, copy number variations or epigenetic changes. Retinal dystrophies can broadly be divided into two forms, either monogenic (single-gene) or complex (multifactorial) diseases. Recent advances in molecular techniques such as genome-wide association studies and next-generation sequencing have revolutionized the discovery of genetic variants associated with different retinal disorders, including retinitis pigmentosa and age-related macular degeneration. Understanding the genetic profile of the disease not only helps in diagnostics but also in gene therapy, as recently shown for Leber’s congenital amaurosis. Following the elucidation of many genetic features of retinal diseases, the task is now to make sense of this large amount of data to better understand as well as experimentally prove the physiological process of the retinal disease genes and the mechanisms behind the diseases. This in turn will lead to improved gene-based therapies and personalize treatments for patients.
© 2016 S. Karger AG, Basel.