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A national network of research laboratories to enhance the nation's capacity for genetic testing of eye disease. They offer testing for affected individuals coupled to a registry of clinical information that is available to the eye research community through a secure, confidential patient registry. eyeGENE will also create a large data set for investigators to identify additional genetic risk factors and to explore the relationship between a genetic disease (genotype) and its clinical manifestation (phenotype). Programs like eyeGENE will drive genomic medicine and become a necessary fabric for personalized medicine. The National Eye Institute is working with a number of vision research laboratories to make genetic testing more readily available to patients and their families, as well as establishing new ones. These laboratories will collect and maintain relevant information in secure databases that will be available to researchers to help speed the progress toward developing treatments and also help identify those who are most likely to benefit from them. The Network will assist in developing public and professional awareness of genotype / phenotype resources that are available to people with various ocular genetic diseases, their clinicians, and scientists studying these diseases. The Network will enhance recruitment of patients interested in participating in future clinical trials related to genetic eye diseases. As a national resource, patients have greater access to diagnostic gene testing and genetic information. Clinicians and researchers will have access to: diagnostic genetic testing; centralized specimen collection, processing, and repository services, standardized phenotypic descriptors; and a shared database of genotype/phenotype information. This will allow the analysis of larger datasets that are necessary to identify novel genetic risk factors for ocular diseases, and answer pharmaco-genetic and epidemiologic questions of ocular disease. The goals and outcomes of this Network are: * To facilitate research on the discovery of the genetic causes of ocular diseases * To provide accurate diagnostic genotyping to patients with inherited eye diseases * To develop public and professional awareness of genotype / phenotype resources for people with inherited diseases that affect the visual system, their clinicians and for scientists studying these diseases * To identify and engage broad patient populations in therapeutic clinical trials designed to diagnose, prevent and treat genetic eye diseases * To allow for the analysis of larger datasets necessary to identify novel genetic risk factors for ocular diseases * To drive refinement / standardization of clinical phenotypic descriptors, especially for complex ocular diseases * To develop and validate cutting-edge genomic technologies and resources for the diagnosis of inherited ocular diseases * To develop a shared database of genotype / phenotype information * To provide a repository of DNA coupled to anonymous phenotypic information for researchers


familial exudative vitreal retinopathy, fzd4, foxc1, abca4, aniridia, pax6, axenfeld - rieger syndrome, pitx2, best's disease, vmd2, bietti's crystalline corneal-retinal dystrophy, cyp4v2, c1qtnf5/ ctrp5, ca4, choroideremia, chm, cnga1, cone rod dystrophy, abca4, congenital cranial dysinnervation disease, kif21a, congenital stationary night blindness, nyx, corneal anterior stromal dystrophy, bigh3, crb1, doyne honeycomb dystrophy, efemp1, glaucoma, cyp1b1, hoxa1, impdh1, juvenile x-linked retinoschisis, xlrs1, krt12, lrp5, meesman's epithelial dystrophy, krt3, mertk, myoc, ndp, optic atrophy, opa1, optn, pantothenate kinase-associated neuropathy, pank2, pattern dystrophy, rds, pde6a, pde6b, phox2a, prpf31, retinitis pigmentosa, retinal degeneration, abca4, rgr, rho, rlbp1, robo3, rp1, rp2, rpe65, rpgr, sall4, sorsby fundus dystrophy, timp3, stargardt disease, elovl4, tulp1, genotype, phenotype, diagnostic, genotyping, clinical trial, genetic eye disease, blood, dna, cell line, genetic testing, treatment, genetics, ophthalmic disease, eye

Resource ID

nif-0000-00229, SCR_004523

Related Condition

Genetic eye disease, Family member

Website Status

Last checked down;

Parent Organization

National Eye Institute



Related Application(s)




Related Disease(s)

Genetic eye disease, Family member



Funding Information



eyeGENE - National Ophthalmic Disease Genotyping Network, National Ophthalmic Disease Genotyping Network (eyeGENE), National Ophthalmic Disease Genotyping Network, National Ophthalmic Disease Genotyping Network (eyeGENETM)

Proper citation

https://nei.nih.gov/eyegene, RRID:nif-0000-00229

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