National Ophthalmic Disease Genotyping Network (eyeGENETM)
Genes and Diseases:
The genes and diseases currently being tested by the eyeGENE network are given in the table below.
S. No |
Disease |
Genes |
|---|---|---|
| 1 | Aniridia | PAX6 |
| 2 | Axenfeld - Rieger Syndrome | PITX2, FOXC1 |
| 3 | Best Disease | VMD2* |
| 4 | Congenital Cranial Dysinnervation Diseases (CCDD) | KIF21A, PHOX2A, SALL4, ROBO3, HOXA1 |
| 5 | Choroideremia | CHM* |
| 6 | Cone Rod Dystrophy | ABCA4*, RPGR |
| 7 | Congenital Stationary Night Blindness | NYX*, RHO, PDE6B* |
| 8 | Corneal Anterior Stromal Dystrophies | BIGH3* |
| 9 | Meesman's Epithelial Dystrophy | KRT3,KRT12 |
| 10 | Bietti's Crystalline Corneal-Retinal Dystrophy | CYP4V2* |
| 11 | Doyne Honeycomb Dystrophy | EFEMP1* |
| 12 | Familial Exudative Vitreal Retinopathy | FZD4, LRP5, NDP |
| 13 | Glaucoma | CYP1B1, OPTN, MYOC |
| 14 | Infantile Neuroaxonal Dystrophy (INAD) | PLA2G6 |
| 15 | Optic Atrophy | OPA1 |
| 16 | Pattern Dystrophy | RDS |
| 17 | Pantothenate Kinase-associated Neuropathy (PKAN) | PANK2 |
| 18 | Juvenile X-linked Retinoschisis | XLRS1* |
| 19 | Retinitis Pigmentosa (RP) and Retinal Degenerations | ABCA4*, RHO, IMPDH1, RP1, PRPF31, RPGR, CNGA1*, CRB1*, C1QTNF5/ CTRP5*, MERTK*, PDE6A*, PDE6B*, RGR*, RLBP1*, RPE65*, TULP1*, CA4, RP2 |
| 20 | Retinoblastoma | RB1 |
| 21 | Sorsby Fundus Dystrophy | TIMP3* |
| 22 | Stargardt Disease | ELOVL4, ABCA4* |
Special Cases:
X-linked conditions
Symptomatic carrier females will be enrolled in the eyeGENETM study once a mutation has been identified in an affected male relative.
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.
Autosomal dominant Cone-Rod Dystrophy
Patient samples will first be stored then processed once the CRX gene is available for testing.
Isolated Cone-Rod Dystrophy
Patient samples will be collected, DNA isolated, stored then CLIA-testing once causative gene assays are available for testing through the eyeGENETM Network.
* Due to the relocation of several Network laboratories, there will be a delay in the turnaround of molecular diagnostic results for the labeled genes. The delay may be as long as 6 months.
