National Ophthalmic Disease Genotyping Network (eyeGENETM)
Genes and Diseases:
The genes and diseases currently being tested by the eyeGENETM network are given in the table below.
Disease |
Genes |
|---|---|
| Aniridia and other developmental eye anomalies | PAX6 |
| Axenfeld - Rieger Syndrome | PITX2, FOXC1 |
| Best Disease | VMD2 |
| Bietti's Crystalline Corneal-Retinal Dystrophy | CYP4V2 |
| Choroideremia | CHM |
| Cone Rod Dystrophy | ABCA4, RPGR, CRX |
| Congenital Cranial Dysinnervation Diseases (CCDD) | KIF21A |
| Congenital Stationary Night Blindness | NYX, RHO, PDE6B |
| Corneal Anterior Stromal Dystrophies | BIGH3 |
| 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 |
| Meesman's Epithelial Dystrophy | KRT3, KRT12 |
| Microphthalmia and Anophthalmia | SIX6, SOX2 |
| Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) | Mitochondrial gene panel |
| X-linked Ocular Albinism | GPR143 (OA1) |
| 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 |
| Retinoblastoma | RB1 |
| Sorsby Fundus Dystrophy | TIMP3 |
| Stargardt Disease | ABCA4, ELOVL4 |
Special Cases:
X-linked conditions
Symptomatic carrier females will be enrolled in the eyeGENETM 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 eyeGENETM repository and NOT CLIA-tested. Although some tests are available, careful systematic diagnostic assays are cost prohibitive to the eyeGENETM 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 eyeGENETM 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 eyeGENETM Network. Patient samples will be collected and DNA will be isolated and stored until a CLIA test become available.
