Genetic Testing for Eye Diseases: A Comprehensive Guide and Review of Ocular Genetic Manifestations from Anterior Segment Malformation to Retinal Dystrophy

Abstract Genetic eye diseases are a heterogeneous group that collectively involve every facet of the eye, ocular adnexa and visual system. An individual condition within this group may be rare or common, have an isolated finding or be part of a syndrome, may severely threaten survivability, significantly affect vision or may have no bearing on visual morbidity. There have been treatment successes and safety reports in clinical trials involving vector-based ocular gene therapies, and there are currently a significant number of loci and genes known to contribute to human ocular disease, many of which have been recently discovered due to recent advances in the field of molecular genetics. In addition to obtaining a medical history and performing a comprehensive ocular exam, acquiring a detailed family history, ordering and interpreting specialized vision function tests and genetic laboratory results appropriately, and having knowledge of the ocular genetic features within the diverse categories of ophthalmic genetic conditions are essential components in effectively managing the patients and their families. With the promise of treatment trials, patients’ interest and need for a molecular diagnosis will be on the rise and clinicians need to be prepared.
Source: Current Genetic Medicine Reports - Category: Genetics & Stem Cells Source Type: research