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About eyeGENE

History of eyeGENE®

Over the past several decades, researchers have identified hundreds of genes that contribute to inherited eye diseases. Disease-causing mutations are associated with many ocular diseases, including glaucoma, cataracts, strabismus, corneal dystrophies and a number of retinal degenerations. This genetic information highlights the significant progress that is being made in understanding the medical basis of human ophthalmic diseases. Armed with this new knowledge, researchers and clinicians are actively developing gene-based therapies to treat ophthalmic genetic diseases that were once considered untreatable.

It is possible to provide genetic testing for patients diagnosed with genetic ocular diseases by analyzing some of these genes. The ability to detect disease-causing mutations in affected individuals not only offers benefits for patients and their families, but also for researchers, by identifying those who may be potential candidates for research and clinical trials.

The National Ophthalmic Genotyping and Phenotyping Network (eyeGENE®) was created by the National Eye Institute (NEI), part of the National Institutes of Health (NIH) to enhance the study of inherited eye diseases. The eyeGENE® Network constructed a framework to link an individual’s clinical information with their DNA samples and genetic testing data. Through the eyeGENE® Network, vision researchers are now able to access high-quality DNA samples linked to clinical features (phenotypic data), and in most cases, genetic data. This information allows them to further their understanding of the mechanisms of eye diseases and develop potential treatments. By participating in eyeGENE®, patients, health care professionals, and researchers are able to join forces to further vision research.


Summer 2003 - Concept design
November 10, 2003 - Concept meeting held. Title: A National Collaborative Network for Ophthalmic Research and Diagnostic Genotyping
February 6, 2004 - National Advisory Eye Council Concept Approval
December 1, 2004 - Initiation of database prototype development
December 23, 2004 - Release of Notice of NEI Administrative Supplements to Enhance Diagnostic Genotyping for Ophthalmic Disease (NOT-EY-05-002)
March 11, 2005 - Closing date for receipt of supplement applications in response to NOT-EY-05-002
June 2005 - Supplement recipients and initial Network clinical laboratories selected
July 7, 2005 - Prototype eyeGENE® database launched
Fall 2005 - eyeGENE® Steering Committee formed
January 11, 2006 - First organizational meeting of the eyeGENE® Network
September 1, 2006 - Functional eyeGENE® database version 1 launched
August 2006 - Final NIH IRB approval for eyeGENE® Stage 1 (sample accrual)
September 20, 2006 - eyeGENE® Stage 1 launched as a pilot program and Network receives first sample
July 2007 - 100th sample received
May 2009 - 1,000th sample received
May 2010 - eyeGENE® issued 1,000th genetic testing result
July 2010 - eyeGENE® Stage 2 launched (allows vision research access to eyeGENE® data and materials) and piloted
August 2010 - 2,000th sample received
December 2010 - First eyeGENE® Stage 2 application received
September 2011 - 3000th sample received
November 2011 - Fourth Stage 2 research study approved


Goals of eyeGENE®:

  1. To facilitate translational eye research by:
    • Providing accurate molecular diagnostic genotyping for persons with heritable eye disorders
    • Maintaining a repository of DNA coupled to accurate phenotypic data for future research and discovery
    • Establishing standardized clinical phenotypic descriptors, especially for complex ocular disorders
    • Developing a shared, open source database of genotype/phenotype information for disease research and future trials of therapeutic interventions
  2. To identify and engage patients in clinical trials designed to diagnose, manage, treat, and prevent genetic eye diseases.
  3. To promote collaborations between clinicians and researchers for the benefit of the American public.
  4. To enhance professional and public awareness and understanding of the genetic basis of ophthalmic disorders and inform of the availability and the value of diagnostic genetics for ophthalmic care.