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, RLBP1, 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.
