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Preserving vision through genetics

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.

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.

Contact eyeGENE®

Department of Health and Human Services NIH, the National Institutes of Health