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RPE65

Zapfen- / Zapfen-Stäbchen-Dystrophie, Erweiterte Diagnostik

ACBD5, ADAM9, ARL3, ATF6, C1QTNF5, C21orf2 (CFAP410), CABP4, CACNA1F, CACNA2D4, CDH3, CDHR1, CEP250, CERKL, CNGB3, CNNM4, CRB1, GNAT2, KIF11, KIZ (PLK1S1), NYX, PDE6C, PDE6H, PITPNM3, POC1B, RAB28, RAX2, RDH12, RDH5, RGS9BP, RIMS1, RIMS2, RP1L1, RPE65, RPGRIP1, SEMA4A, TTLL5, UNC119

Makuladystrophie

ABCA4, BEST1, C1QTNF5, CDH3, CDHR1, CFH, CNGB3, CRX, CTNNA1, ELOVL4, GUCA1B, IMPG1, IMPG2, PROM1, PRPH2, RDH5, RP1L1, RPE65, RPGR, TIMP3, TTLL5

Retinitis Pigmentosa / Stäbchendystrophie, Basisdiagnostik

CNGB1, CRB1, EYS, IMPDH1, NR2E3, PDE6A, PDE6B, PROM1, PRPF31, PRPF8, RBP3, RDH12, RHO, RP1, RP2, RPE65, RPGR, SNRNP200, TOPORS, USH2A

Leber’sche kongenitale Amaurose

AIPL1, ALMS1, CEP290, CRB1, CRX, GUCY2D, IFT140, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1

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