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National Ophthalmic Disease Genotyping Network (eyeGENE®)
Genes and Diseases:
The genes and diseases currently being tested by the eyeGENE® network are given in the table below.
Disease |
Genes |
|---|---|
| Aniridia and other developmental eye anomalies | PAX6, WT1, DCDC1, ELP4 |
| Axenfeld - Rieger Syndrome | PITX2, FOXC1 |
| Best Disease | VMD2 |
| Bietti's Crystalline Corneo-Retinal Dystrophy | CYP4V2 |
| Choroideremia | CHM |
| Chronic Progressive External Ophthalmoplegia (CPEO)/Kearns-Sayre Syndrome (KSS) | Mitochondrial gene panel |
| Cone Rod Dystrophy | ABCA4, RPGR, CRX |
| Congenital Cranial Dysinnervation Diseases (CCDD) | KIF21A |
| Congenital Stationary Night Blindness | NYX, RHO, PDE6B |
| Corneal Dystrophy | TGFBI, KRT3, KRT12 |
| Doyne Honeycomb Dystrophy | EFEMP1 |
| Familial Exudative Vitreal Retinopathy | FZD4, LRP5, NDP |
| Glaucoma | CYP1B1, OPTN, MYOC |
| Hermansky-Pudlak Syndrome | HPS1, HPS3 |
| Infantile Neuroaxonal Dystrophy (INAD) | PLA2G6 |
| Juvenile X-linked Retinoschisis | RS1 (XLRS1) |
| Leber Hereditary Optic Neuropathy (LHON) | ND4, ND1, ND6 |
| Lowe Syndrome | OCRL |
| Microphthalmia and Anophthalmia | SIX6, SOX2, OTX2, VSX2 |
| Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) | Mitochondrial gene panel |
| Myoclonis Epilepsy associated with Ragged Red Fibers (MERRF) | Mitochondrial gene panel |
| Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) | Mitochondrial gene panel |
| Optic Atrophy Type 1 | OPA1 |
| Pantothenate Kinase-associated Neuropathy (PKAN) | PANK2 |
| Pattern Dystrophy | RDS |
| Retinitis Pigmentosa (RP) and Retinal Degenerations | ABCA4, RHO, RDS, IMPDH1, PRPF31, PRPF3, RP1, PRPF8, NR2E3, TOPORS, RPGR, RP2, CNGA1, CRB1, C1QTNF5/ CTRP5, MERTK, PDE6A, PDE6B, RGR, RPE65, TULP1, CA4, USH2A, EYS |
| Retinoblastoma | RB1 |
| Sorsby Fundus Dystrophy | TIMP3 |
| Stargardt Disease | ABCA4, ELOVL4 |
| X-linked Ocular Albinism | GPR143 (OA1) |
Special Cases:
X-linked conditions
Symptomatic carrier females will be enrolled in the eyeGENE® study on a case by case basis.
X-linked retinitis pigmentosa (XLRP)
The first tier of molecular diagnosis for XLRP
consists in sequencing the ORF15 of the RPGR-ORF15 gene. The second tier consists in sequencing exons 1 through 14 of the RPGR gene. The third tier consists in sequencing the RP2 gene. It has been estimated that RPGR ORF15 exon mutations account for 30 to 60% of XLRP cases and mutations in other RPGR exons account for 11 to 26% of XLRP cases. Mutations in the RP2 gene are observed in 7 to 20% of XLRP cases.
Sporadic isolated retinitis pigmentosa
At the present time, patient samples will be collected and stored in the eyeGENE® repository and NOT CLIA-tested. Although some tests are available, careful systematic diagnostic assays are cost prohibitive to the eyeGENE® Network at this time. These stored samples will be CLIA-tested once new CLIA-approved diagnostic technology (such as diagnostic CHIP technology) is available through the eyeGENE® Network. We anticipate the development and validation of this technology may take one year or longer.
Isolated Cone-Rod Dystrophy
Causative gene assays are not currently available for testing through the eyeGENE® Network. Patient samples will be collected and DNA will be isolated and stored until a CLIA test become available.
Referring clinical organizations are strongly encouraged to submit parental samples for individuals enrolled in eyeGENE® for recessive conditions including Stargardt disease. Parental samples should be entered into the database under the unaffected family member category and the individual should be asked to complete an unaffected relative consent form.
