The eyeGENE Network was designed to gather and manage molecular diagnostic and phenotypic clinical data for use in facilitating ophthalmic disease research by the vision research community. Individuals have been recruited into the eyeGENE Network from academic centers, private practices and the NEI. Referring eye health care providers were required to complete an online registration, obtain informed consent and assure that genetic counseling will be provided. Phenotypic/clinical information was entered via a secure web-based eyeGENE-specific database by referring eye health care providers. In consultation, DNA was sent to Network CLIA labs for molecular diagnostic testing on specific disorders, while the remainder is stored at the eyeGENE Repository. The Coordinating Center, based at NEI, manages the centralized repository for blood/DNA and the genotype/phenotype data. The Coordinating Center also manages the referral of clinical genetic testing for patients submitted from participating clinics to a Network CLIA-certified lab. CLIA labs provide molecular genetic diagnostic reports which are incorporated into the eyeGENE data set, whereupon the Coordinating Center contacts the referring clinician and reports the test results. An external Steering Committee provides opinions regarding scientific, ethical, and management issues relating to eyeGENE. Over 550 individuals representing over 300 clinical organizations were registered with the Network. Currently, 8 CLIA associated laboratories provide testing for over 100 genes. Mutations in these genes correlate with over 35 different clinical ocular diagnoses. Diseases include but are not limited to: Achromatopsia, Albinism, Aniridia and other developmental eye anomalies, Axenfeld-Rieger Syndrome, Best Disease, Bietti's Crystalline Corneo-Retinal Dystrophy. Choroideremia, Chronic Progressive External Ophthalmoplegia (CPEO)/Kearns-Sayre Syndrome (KSS), Cone Rod Dystrophy, Congenital Cranial Dysinnervation Diseases (CCDD), Congenital Stationary Night Blindness, Corneal Dystrophy, Doyne Honeycomb Dystrophy, Familial Exudative Vitreal Retinopathy, Glaucoma, Hermansky-Pudlak Syndrome, Infantile Neuroaxonal Dystrophy (INAD), Juvenile X-linked Retinoschisis, Leber Hereditary Optic Neuropathy (LHON), Lowe Syndrome, Microphthalmia and Anophthalmia, Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS), Myoclonis Epilepsy associated with Ragged Red Fibers (MERRF), Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP), Optic Atrophy Type 1, Pantothenate Kinase-associated Neuropathy (PKAN), Pattern Dystrophy, Retinitis Pigmentosa (RP) and other retinal degenerative diseases, Retinoblastoma, Sorsby Fundus Dystrophy, Stickler Syndrome and Stargardt Disease, Usher Syndrome. Over 6,000 participants were enrolled and over 30,000 samples have been collected and stored in the repository. Samples and corresponding de-identified clinical and genetic information are available to vision researchers with an approved research project. eyeGENE has 15 active research studies that request access to data and/or DNA samples and in some cases eyeGENE has been a recruitment tool for additional independent studies and treatment trials. The eyeGENE Network serves as a model of precision medicine on a smaller scale for rare diseases. It also serves as a model for broad-based community partnerships.

National Institute of Health (NIH)
National Eye Institute (NEI)
Scientific Cores Intramural Research (ZIC)
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U.S. National Eye Institute
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Gao, Jackson; D'Souza, Leera; Wetherby, Keith et al. (2017) Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W. Cell Biosci 7:22
Parrish, Rebecca S; Garafalo, Alexandra V; Ndifor, Vida et al. (2016) Sample Confirmation Testing: A Short Tandem Repeat-Based Quality Assurance and Quality Control Procedure for the eyeGENE Biorepository. Biopreserv Biobank 14:149-55
Alapati, Akhila; Goetz, Kerry; Suk, John et al. (2014) Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. Invest Ophthalmol Vis Sci 55:5510-21
Sullivan, Lori S; Bowne, Sara J; Reeves, Melissa J et al. (2013) Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 54:6255-61
Blain, D; Goetz, K E; Ayyagari, R et al. (2013) eyeGENE®: a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing. Clin Genet 84:190-7
Tumminia, Santa J (2012) Harnessing academia, government, and industry. Invest Ophthalmol Vis Sci 53:2515-21
Goetz, Kerry E; Reeves, Melissa J; Tumminia, Santa J et al. (2012) eyeGENE(R): a novel approach to combine clinical testing and researching genetic ocular disease. Curr Opin Ophthalmol 23:355-63
Song, Jin; Smaoui, Nizar; Ayyagari, Radha et al. (2011) High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy. Invest Ophthalmol Vis Sci 52:9053-60
Brooks, Brian P; Macdonald, Ian M; Tumminia, Santa J et al. (2008) Genomics in the era of molecular ophthalmology: reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE). Arch Ophthalmol 126:424-5