2014 ACMG: Successes using ACE Exome Sequencing to Identify the Genetic Causes of Retinal Disorders

Retinal disorders are often Mendelian in nature, being caused by mutation of a single gene in a given individual. There is great interest in determining the genetic etiology of retinal disorders on a case-by-case basis in order to determine prognosis, inform counseling and risk assessment, and even determine therapies. However, identifying the genetic cause of retinal disorders is challenging due to a number of factors that confound diagnosis.