eyeGENE®: a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing

Clin Genet. 2013 Aug;84(2):190-7. doi: 10.1111/cge.12193. Epub 2013 Jun 5.


Molecular genetics and genomics are revolutionizing the study and treatment of inherited eye diseases. In recognition of the impact of molecular genetics on vision and ophthalmology, the National Eye Institute established the National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE®) as a multidirectional research initiative whereby a clinical component for patients diagnosed with inherited eye disease fosters research into the causes and mechanisms of these ophthalmic diseases. This is accomplished by broadening access to genetic diagnostic testing and maintaining a repository of DNA samples from clinically characterized individuals and their families to allow investigations of the causes, interventions, and management of genetic eye disorders. The eyeGENE® Network currently includes Clinical Laboratory Improvement Amendments (CLIA)-certified diagnostic laboratory partners, over 270 registered clinical organizations with 500 registered users from around the United States and Canada, and is now testing approximately 100 genes representing 35 inherited eye diseases. To date, the Network has received 4400 samples from individuals with rare inherited eye diseases, which are available for access by the vision research community. eyeGENE® is a model partnership between the U.S. federal government, eye health care providers, CLIA-approved molecular diagnostic laboratories, private industry, and scientists who represent a broad research constituency.

Keywords: biorepository; clinical trials; diagnostic genotyping; eyeGENE®; genetic testing; ocular genetics; patient registry.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • Biological Specimen Banks / organization & administration*
  • Genetic Association Studies
  • Genetic Testing
  • Genomics
  • Humans
  • Patient Care
  • Public-Private Sector Partnerships
  • Registries
  • Research
  • United States