Genetic Test Evaluation

understanding how genetic tests impact patient management

Retinal Dystrophy Panel (Blueprint Genetics)

March 30, 2018

Retinal dystrophies are a group of genetically and phenotypically diverse disorders that affect the function of the retina. These disorders may be inherited in an X-linked, autosomal dominant, autosomal recessive, or mitochondrial pattern with more than 200 genes identified affecting the pathways and mechanisms of retinal disease. Phenotypes for retinal dystrophies include retinitis pigmentosa, Leber’s congenital amaurosis, rod-cone dystrophy, cone or cone-rod dystrophy, Stargardt’s macular dystrophy, congenital stationary night blindness, and choroideremia. Research efforts have led to advancements in potential treatments with the availability of trials in genetic and cellular therapy for retinal dystrophies, some of which are variant specific (Grob et al., 2016). For example, the FDA has approved a gene therapy for children and adults with a retinal dystrophy due to pathogenic variants in the RPE65 gene (FDA, 2107). This synopsis reviews 1 genetic testing panel for retinal dystrophies, the Retinal Dystrophy Panel offered by Blueprint Genetics.