eyeGENE® - National Ophthalmic Disease Genotyping Network
Genes and Diseases:
The genes and diseases currently being tested by the eyeGENE® network are given in the table below.
Diagnoses eligible for inclusion |
Genes that may be tested |
|---|---|
| Albinism | Recessive TYR, OCA2, TYRP1, SLC45A1 X-linked GPR143 (OA1) |
| Aniridia and other developmental eye anomalies | PAX6, WT1, DCDC1, ELP4 |
| Axenfeld - Rieger Syndrome | PITX2, FOXC1 |
| Best Disease | BEST1 |
| Bietti's Crystalline Corneo-Retinal Dystrophy | CYP4V2 |
| Choroideremia | CHM |
| Chronic Progressive External Ophthalmoplegia (CPEO)/Kearns-Sayre Syndrome (KSS) Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS), Myoclonis Epilepsy associated with Ragged Red Fibers (MERRF), Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) | Mitochondrial gene panel |
| Cone Rod Dystrophy | ABCA4, RPGR, CRX, GUCY2D (codon R838) |
| Congenital Cranial Dysinnervation Diseases (CCDD) | KIF21A, CHN1, SALL4, TUBB3 |
| Congenital Stationary Night Blindness | RHO, NYX |
| Corneal Dystrophy | TGFBI, KRT3, KRT12 |
| Doyne Honeycomb Dystrophy | EFEMP1 |
| Familial Exudative Vitreal Retinopathy | FZD4, LRP5, NDP, TSPAN12 |
| Glaucoma | CYP1B1, OPTN, MYOC |
| Hermansky-Pudlak Syndrome | HPS1 and HPS3* |
| Infantile Neuroaxonal Dystrophy (INAD) | PLA2G6 |
| Juvenile X-linked Retinoschisis | RS1 |
| Leber Hereditary Optic Neuropathy (LHON) | LHON panel (MT-ND4, MT-ND1, MT-ND6/mutations 11778G>A, 3460G>A, 14484T>C, and 14459G>A) |
| Lowe Syndrome | OCRL |
| Microphthalmia and Anophthalmia | SIX6, SOX2, OTX2, CHX10 |
| Optic Atrophy Type 1 | OPA1 |
| Pantothenate Kinase-associated Neuropathy (PKAN) | PANK2 |
| Pattern Dystrophy | RDS |
| Retinitis Pigmentosa (RP) and Retinal Degenerations | Dominant (panel** including RHO, PRPH2, RP1, IMPDH1, PRPF8, NR2E3, PRPF3, TOPORS, PRPF31, KLHL7), CA4, CRB1, CTRP5 X-linked RPGR, RP2 |
| Retinoblastoma | RB1 |
| Sorsby Fundus Dystrophy | TIMP3 |
| Stargardt Disease | ABCA4, ELOVL4, RDS |
*In individuals of Puerto Rican decent - test screens for a 16 bp duplication in HPS1 and a 3.9 kb deletion in HPS3. Ashkenazi Jewish individuals will be tested for IVS5 splice site mutations in HPS3 only. HPS samples from individuals outside of these categories will not be tested at this time
**not all genes sequenced in full and not all are available outside of panel
Genetic tests ordered are determined by the eyeGENE® Working Group after review of the clinical data submitted by the referring clinician.
Sporadic/isolated and recessive retinitis pigmentosa and sporadic/isolated and recessive Cone-Rod Dystrophy
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.
Last Updated: September 15, 2011
