Genetics in retinal diseases

Abstract

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 ..