ErkrankungGen(e)
AniridieELP4 PAX6
Anterior Segment DysgenesieEYA1 FOXC1 HMX1 MIR184 PAX6 PITX2 PITX3 VSX1
AphakiaFOXE3
Ataxie-okulomotorische ApraxieAPTX PIK3R5 SETX ZC4H2
Axenfeld-Rieger SyndromCOL4A1 FOXC1 PITX2
Bardet-Biedl SyndromBBS1 BBS2 ARL6 BBS4 BBS5 MKKS BBS7 TTC8 PTHB1 BBS10 TRIM32 BBS12 MKS1 CEP290 WDPCP SDCCAG8 LZTFL1 BBIP1 IFT27 CCDC28B TMEM67 ALMS1
ChoroideremieCHM POU3F4
Exsudative VitreoretinopathieCAPN5 FZD4 LRP5 NDP TSPAN12
Externe OpthalmoplegieC10orf2 DNA2 POLG POLG POLG2 RRM2B SLC25A4
Foveale HypoplasiePAX6 SLC38A8
GlaukomADAMTS10 ASB10 BEST1 CREBBP CYP1B1 ELP4 FBN1 FOXC1 GJA1 LMX1B LTBP2 MYOC NTF4 OPA1 OPTN PAX6 PIK3R1 PITX2 POMT1 SBF2 SH3PXD2B SLC4A4 VCAN VSX1 WDR36
Hyperferritinämie-Katarakt SyndromFTL
KataraktAGK BEST1 BFSP1 BFSP2 CHMP4B CRYAA CRYAB CRYBA1 CRYBA4 CRYBB1 CRYBB2 CRYBB3 CRYGB CRYGC CRYGD CRYGS CTDP1 EPG5 EPHA2 FTL FYCO1 GCNT2 GFER GJA3 GJA8 HMX1 HSF4 LIM2 MAF MCOPCT1 MCOPCT2 MIP MIR184 NHS NHS PITX3 SIX6 TDRD7 VIM WFS1
Kearns-Sayre Syndrommit
KolobomABCB6 ACTB CHD7 CHX10 GDF3 GDF6 HMX1 IGBP1 MCOPCB4 ODZ3 PAX2 PAX6 PIGL RBP4 SEMA3E SHH SRD5A3 STRA6 YAP1
Lebersche kongenitale AmauroseAIPL1 CEP290 CRB1 CRX GDF6 GUCY2D IMPDH1 KCNJ13 LCA5 LRAT NMNAT1 NPHP1 RD3 RDH12 RPE65 RPGRIP1 SPATA SPATA7 TULP1
Lebersche Optikusatrophiemit
Peters AnomalieCYP1B1 PAX6 PITX2
Peters-Plus SyndromB3GALTL
Retinitis pigmentosaABCA4 ARL6 BEST1 C2orf71 C8orf37 CA4 CDHR1 CERKL CLRN1 CNGA1 CNGB1 CRB1 DHDDS EYS FAM161A FSCN2 GUCA1B HPRP3 IDH3B IMPDH1 IMPG2 IMPG2 KIZ KLHL7 MAK MERTK NEK2 NR2E3 NRL OFD1 PDE6A PDE6B PDE6G PRCD PROM1 PRPF31 PRPF6 PRPF8 PRPH2 RBP3 RDH12 RGR RHO ROM1 RP RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A SLC7A14 SNRNP200 TOPORS TTC8 TULP1 USH2A ZNF513
RetinoschisisNR2E3 RS1
Vitreoretinochoroidopathie (ADVIRC)BEST1