Genetic testing of various eye disorders

Abstract A significant number of individuals suffer from hereditary ocular disorders and age-related vision impairments and that number is expected to double as the population ages. With the recent advancements in gene therapy shown to be effective in treating some forms of eye disease, it has become clinically relevant to provide accurate genetic diagnosis in these cases. However, considerable genetic overlap between clinical phenotypes necessitates tailored genetic testing approaches to identify the underlying causes. Furthermore, multiple classes of pathogenic variants have been associated with ocular disorders, which include coding and non-coding changes, copy number variation (CNV), and chromosomal aberrations each requiring specific sequencing strategies, while follow-up experimentation is required to fully assess their pathogenicity. This chapter discusses current methods to detect and analyze genetic variants leading to eye disease with the ultimate goal of identifying therapeutic targets for treatment.