Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network.

ABSTRACT: Genetic testing in a multisite clinical trial network for inherited eye conditions is described in this retrospective review of data collected through eyeGENE®, the National Ophthalmic Disease Genotyping and Phenotyping Network. Participants in eyeGENE were enrolled through a network of clinical providers throughout the United States and Canada. Blood samples and clinical data were collected to establish a phenotype:genotype database, biorepository, and patient registry. Data and samples are available for research use, and participants are provided results of clinical genetic testing. eyeGENE utilized a unique, distributed clinical trial design to enroll 6,403 participants from 5,385 families diagnosed with over 30 different inherited eye conditions. The most common diagnoses given for par

SUBMITTER: Goetz KE 

PROVIDER: S-EPMC8162059 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature