The eyeGENE Network was designed to gather and manage molecular diagnostic and phenotypic clinical data for use in ophthalmic disease research. Individuals have been recruited into eyeGENE from academic centers, private practices and the NEI. Referring eye health care providers are required to complete an online registration, obtain informed consent and assure that genetic counseling will be provided. Phenotypic information is entered via a secure web-based eyeGENE-specific database by referring eye health care providers. In consultation, DNA is 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 a centralized repository for blood/DNA and a genotype/phenotype database. 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-specific database, 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. To date, over 300 individuals representing around 100 clinical organizations have registered with the Network.Currently, 13 CLIA associated laboratories provide testing for over 70 genes. Mutations in these genes correlate with over 30 different clinical ocular diagnoses. Diseases include: 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, Stargardt Disease and X-linked Ocular Albinism. Over 1000 patient samples have been entered into the database. Public access to de-identified clinical and genetic information is under development and will be available to researchers in the vision community upon NIH IRB approval. The eyeGENE Network serves as a model of broad-based community collaboration for other genetic conditions. The eyeGENE Network will continue to serve the vision community by promoting accessibility of genetic testing to patients with ocular diseases and by promoting clinical and basic research for a better understanding and treatment of ocular diseases.

Agency
National Institute of Health (NIH)
Institute
National Eye Institute (NEI)
Type
Scientific Cores Intramural Research (ZIC)
Project #
1ZICEY000478-01
Application #
7970114
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
1
Fiscal Year
2009
Total Cost
$574,346
Indirect Cost
Name
U.S. National Eye Institute
Department
Type
DUNS #
City
State
Country
Zip Code
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