Table 1.
Genes and diseases currently being tested by the eyeGENE network
| 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 corneoretinal dystrophy | CYP4V2 |
| Choroideremia | CHM |
| Chronic progressive external ophthalmoplegia/Kearns–Sayre syndrome, mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes, myoclonic epilepsy associated with ragged red fibers, neuropathy, ataxia, and retinitis pigmentosa |
Mitochondrial gene panel |
| Cone rod dystrophy | ABCA4, RPGR, CRX, GUCY2D (codon R838) |
| Congenital cranial dysinnervation diseases | KIF21A, CHN1, SALL4, TUBB3 |
| Congenital stationary night blindness | RHO, NYX |
| Corneal dystrophy | TGFBI, KRT3, KRT12 |
| Doyne honeycomb dystrophy | EFEMP1 |
| Familial exudative vitreoretinopathy | FZD4, LRP5, NDP, TSPAN12 |
| Glaucoma | CYP1B1, OPTN, MYOC |
| Hermansky–Pudlak syndrome | HPS1 and HPS3a |
| Infantile neuroaxonal dystrophy | 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 | PANK2 |
| Pattern dystrophy | RDS |
| Retinitis pigmentosa and retinal degenerations | Dominant (panelb including RHO, PRPH2, RP1, IMPDH1, PRPF8, NR2E3, PRPF3, TOPORS, PRPF31, RP1, KLHL7), CA4, CRB1, CTRP5 X-linked RPGR, RP2 |
| Retinoblastoma | RB1 |
| Sorsby fundus dystrophy | TIMP3 |
| Stargardt disease | ABCA4, ELOVL4, RDS |
Updated 15 September 2011.
a
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.
b
Not all genes sequenced in full and not all are available outside of panel.