Genes and Diseases eyeGENE®
The genes and diseases currently being tested by the eyeGENE® Network are given in the table below. The eyeGENE® Working Group, which includes ophthalmologists and genetic counselors, determines the genetic tests that are ordered upon the review of the clinical data submitted by the referring health care provider. At any point in the process, the referring health care provider is welcome to confer with his/her NEI professional colleagues.
| Diagnoses eligible for inclusion | Genes that may be tested |
|---|---|
| Achromatopsia | CNGA3, CNGB3 |
| Albinism | Recessive TYR, OCA2, TYRP1, SLC45A2 X-linked GPR143 (OA1) |
| Aniridia and other developmental eye anomalies | PAX6, WT1#, DCDC1#, ELP4# (# del/dup testing only) |
| Axenfeld - Rieger Syndrome | FOXC1, PITX2 |
| Best Disease | BEST1 |
| Bietti's Crystalline Corneo-Retinal Dystrophy | CYP4V2 |
| Choroideremia | CHM |
| Chronic Progressive External Ophthalmoplegia (CPEO) | POLG |
| Cone Rod Dystrophy | ABCA4, RPGR, CRX, GUCY2D (codon R838) |
| Congenital Cranial Dysinnervation Diseases (CCDD) | KIF21A, CHN1, SALL4, TUBB3, HOXA1, PHO2A, ROBO3, HOXB1 |
| Congenital Stationary Night Blindness/Oguchi Disease | GPR179, RHO, NYX, TRPM1, SAG |
| Corneal Dystrophy | TGFBI, KRT3, KRT12 |
| Doyne Honeycomb Dystrophy | EFEMP1 |
| Familial Exudative Vitreal Retinopathy | FZD4, LRP5, NDP, TSPAN12 |
| Familial/Congenital Nystagmus (familial cases only) | FRMD7 |
| Fundus Albipunctatus/Bothnia Retinal Dystrophy | RDH5, RLBP1 |
| Glaucoma (juvenile open angle and congenital only) | CYP1B1, OPTN, MYOC |
| Hermansky-Pudlak Syndrome | HPS1 and HPS3* |
| Juvenile X-linked Retinoschisis | RS1 |
| 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 (from blood only - muscle biopsies are not accepted) |
| 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 | RAX, SOX2, OTX2, VSX2, STRA6 and SIX6del/dup analysis |
| Neurodegeneration with Brain Iron Accumulation (NBIA) | FA2H, MMIN, PANK2, PLA2G6 |
| Occult Macular Dystrophy | RP1L1 (R45W) |
| Optic Atrophy, Dominant | OPA1, OPA3 |
| Papillo-renal Syndrome | PAX2 |
| Pattern Dystrophy | PRPH2 |
| Retinitis Pigmentosa (RP) and Retinal Degenerations | Dominant (panel** including RHO, PRPH2, RP1, IMPDH1, PRPF8, NR2E3, PRPF3, TOPORS, PRPF31, RP1, KLHL7, SNRNP200), CA4, CRB1, CTRP5 X-linked RPGR, RP2 Recessive: single genes available on limited basis - please inquire with CC |
| Retinoblastoma^ (12/50 enrolled for 2013) | RB1 |
| Sorsby Fundus Dystrophy | TIMP3 |
| Stargardt Disease | ABCA4, ELOVL4, PRPH2 |
| Stickler Syndrome^ (12/50 enrolled for 2013) | COL2A1 |
| Usher Syndrome^ (Limit exceeded for 2013, 10/50 pending testing in 2014) | Usher panel** (CDH23, CLRN1, DFNB31 (WHRN), GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A) |
Updated 5-14-2013
^ Limited to 50 tests per yr; Participants' samples will be tested in the order they are received. Please contact the eyeGENE® Coordinating Center for more details.
*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 is available through the eyeGENE® Network. Potential results may become available through research screening. Individual level genetic results from research will be confirmed in a CLIA- approved diagnostic laboratory before being communicated.
