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Molekulargenetik

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Augenerkrankungen

Erkrankungen Gene
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Achromatopsie

ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H

Atrophia gyrata

OAT

Bardet-Biedl Syndrom

ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP19, CEP290, IFT27, LZTFL1, MKKS, MKS1, SDCCAG8, TRIM32, TTC8, WDPCP

Choroideremie

CHM

Leber’sche kongenitale Amaurose

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

Makuladystrophie

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

Mb. Stargardt

ABCA4, CNGB3, ELOVL4, PROM1, PRPH2

Optikusatrophie

ACO2, AFG3L2, DNAJC30, DNM1L, MFN2, NBAS, NR2F1, OPA1, OPA3, SLC25A46, SPG7, SSBP1, TMEM126A, WFS1

Retinitis Pigmentosa / Stäbchendystrophie, Basisdiagnostik

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

Retinitis Pigmentosa / Stäbchendystrophie, Erweiterte Diagnostik

ABCA4, ADGRA3, ADIPOR1, AHI1, AHR, ARL2BP, ARL3, ARL6, BBS1, BBS2, BBS9, C8orf37, CA4, CACNA1F, CDHR1, CEP290, CERKL, CHM, CLN3, CLRN1, CNGA1, CRX, CYP4V2, DHDDS, DHX38, FAM161A, FLVCR1, FSCN2, GNAT1, GPR179, GUCA1B, HGSNAT, HK1, IDH3B, IFT140, IFT172, IMPG2, KIAA1549, KIZ, KLHL7, LRAT, MAK, MERTK, MFRP, NEUROD1, NRL, PCARE (C2orf71), PCYT1A, PDE6G, PLA2G5, POMGNT1, PRCD, PRPF3, PRPF4, PRPF6, PRPF8, PRPH2, RAX2, RBP4, RCBTB1, RDH11, RGR, RLBP1, ROM1, RP1L1, RP9, RPGRIP1, SAG, SCAPER, SEMA4A, SLC7A14, SPATA7, SPP2, TUB, TULP1, ZNF408, ZNF513

Retinoschisis

CRB1, MFRP, RS1

Zapfen- / Zapfen-Stäbchen-Dystrophie, Basisdiagostik

ABCA4, BEST1, CEP290, CNGA3, CRX, GUCA1A, GUCY2D, KCNV2, PROM1, PRPH2, RPGR

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

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