title: Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies.
abstract: Inherited eye disorders are a significant cause of vision loss. Genetic testing can be particularly helpful for patients with inherited retinal dystrophies because of genetic heterogeneity and overlapping phenotypes. The need to identify a molecular diagnosis for retinal dystrophies is particularly important in the era of developing novel gene therapy-based treatments, such as the RPE65 gene-based clinical trials and others on the horizon, as well as recent advances in reproductive options. The introduction of massively parallel sequencing technologies has significantly advanced the identification of novel gene candidates and has expanded the landscape of genetic testing. In a relatively short time clinical medicine has progressed from limited testing options to a plethora of choices ranging from single-gene testing to whole-exome sequencing. This article outlines currently available genetic testing and factors to consider when selecting appropriate testing for patients with inherited retinal dystrophies.
authors: Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
authors: Kristy
authors: K
authors: Lee
authors: Department of Ophthalmology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
authors: Seema
authors: S
authors: Garg
mesh_terms: D018740:Genetic Heterogeneity; D005820:Genetic Testing; D015316:Genetic Therapy; D006801:Humans; D057089:Pathology, Molecular; D010641:Phenotype; D058499:Retinal Dystrophies / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D019745:cis-trans-Isomerases / Q000235:genetics / Q000627:therapeutic use; D000099178:Retinoid Isomerohydrolase
chemical_list: D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase