Augenerkrankungen
Zugehörige Erkrankungen
Stargardt-Krankheit
Kongenitale extraokuläre Muskelfibrose (Kongenitale Ophthalmoplegie)
Retinitis pigmentosa (selektiert)
Hereditäres Glaukom
Lebersche kongenitale Amaurose (Amaurosis congenita Leber)
Kongenitale Netzhautdystrophien
Morbus-Stargardt Gen-Panel (6 Gene)
ABCA4, CRB1, CNGB3, ELOVL4, PROM1 und PRPH2.
Kongenitale extraokuläre Muskelfibrose (Kongenitale Ophthalmoplegie) Gen-Panel (4 Gene)
COL25A1, PHOX2A, KIF21A and TUBB3.
Retinitis pigmentosa Gen-Panel (8 Gene)
ABCA4, EYS, PRPF31, PRPH2, RHO, RP1, RP2 und RPGR.
Glaukom Gen-Panel (13 Gene)
CVR1, MYOC, BEST1, COL18A1, CYP1B1, FOXC1, FOXE3, LTBP2, NTF4, OPA1, OPTN, PAX6 und PITX3.
Lebersche kongenitale Amaurose (LCA) Gen-Panel (22 Gene)
AIPL1, CABP4, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, PRPH2, RD3, RDH12, ROM1, RPE65, RPGRIP1, SPATA7, TULP1.
Netzhautdystrophie Gen-Panel (216 Gene)
ABCC6, ABHD12, ACBD5, ADAM9, ADAMTS18, ADIPOR1, AHI1, AIPL1, ALMS1, ARL6, ARMS2, ATF6, ATXN7, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, BEST1, C2orf71, C8orf37, C12orf65, C2, C3, C1QTNF5, CA4, CABP4, CACNA1F, CACNA2D4, CC2D2A, CDH3, CDH23, CDHR1, CEP290, CERKL, CFB, CFH, CHM, CIB2, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL2A1, COL9A1, CRB1, CRX, CYP4V2, DFNB31, DHDDS, DMD, EFEMP1, ELOVL4, ERCC6, EYS, FAM161A, FBLN5, FLVCR1, FSCN2, FZD4, GDF6, GNAT1, GNAT2, GNB3, GNPTG, GPR98, GPR179, GRK1, GRM6, GUCA1A, GUCA1B, GUCY2D, HARS, HBM, HGSNAT, HK1, HMCN1, HMX1, HTRA1, IDH3B, IFT140, IMPDH1, IMPG2, INVS, IQCB1, ITM2B, JAG1, KCNJ13, KCNV2, KIF11, KLHL7, LAMA1, LCA5, LRAT, LRP5, LZTFL1, MAK, MERTK, MFN2, MFRP, MFSD8, MKKS, MKS1, MTTP, MVK, MYO7A, NBAS, NDP, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OFD1, OPA1, OPA3, OPN1LW, OPN1MW, OPN1SW, OTX2, PANK2, PAX2, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX1, PEX2, PEX7, PGK1, PHYH, PITPNM3, PLA2G5, PNPLA6, POMGNT1, PRCD, PROM1, PRPF3, PRPF6, PRPF8, PRPF31, PRPH2, PRPS1, RAB28, RAX2, RB1, RBP3, RBP4, RD3, RDH5, RDH12, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP2, RP9, RP1L1, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, SAG, SDCCAG8, SEMA4A, SLC24A1, SNRNP200, SPATA7, TEAD1, TIMM8A, TIMP3, TLR3, TLR4, TMEM126A, TMEM216, TMEM237, TOPORS, TREX1, TRIM32, TRPM1, TSPAN12, TTC8, TTPA, TUBGCP4, TUBGCP6, TULP1, UNC119, USH1C, USH1G, USH2A, VCAN, WDPCP, WDR19, WFS1 und ZNF513.
