Genetic Testing for Inherited Retinal Dystrophies: Basic Understanding
摘要
Accessiblity and benefits for genetic testing for inherited retinal dystrophies is increasing over time. However the trainign for most ophtalmolgists have not necessarily kept up with the changes in genetic tessting techologies. The chapter addresses the basics of the genome and DNA. It discusses the different types of genetic testing and gives suggestions for when to order them for an inherited retinal dystrophy. Additionally key points of informed consent are discussed when discussing genetic testing with patients.