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 |
---|---|
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 | PITX2, FOXC1 |
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 |
Familial/Congenital Nystagmus (X-linked cases only) | FRMD7 |
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 |
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 |
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, SNRPN200), CA4, CRB1, CTRP5 X-linked RPGR, RP2 Recessive: single genes available on as needed basis - please inquire with CC |
Retinoblastoma^ (12/50 enrolled for 2013) | RB1 |
Sorsby Fundus Dystrophy | TIMP3 |
Stargardt Disease | ABCA4, ELOVL4, RDS |
Stickler Syndrome^ (6/50 enrolled for 2013) | COL2A1 |
Usher Syndrome^ (Limit exceeded for 2013) | Usher panel** (CDH23, CLRN1, DFNB31 (WHRN), GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A) |
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.
Last Updated: February 2013