Ophthalmology

Retinal dystrophies and differential diagnosis – 476 genes

ABCA4, ABCC6, ABHD12, ACBD5, ACO2, ACOX1, ADAM9, ADAMTS9, ADAMTS18, ADGRV1, ADIPOR1, AFG3L2, AGBL5, AHI1, AHR, AIPL1, ALG6, ALMS1, ALPK1, ANKS6, ANTXR1, APOB, APOE, AP3B1, AP3D1, ARHGAP31, ARHGEF18, ARL13B, ARL2, ARL2BP, ARL3, ARL6, ARMC9, ARSG, ARV1, ASRGL1, ATAD3A, ATF6, ATOH7, ATP1A3, ATXN2, ATXN7, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, BLOC1S3, BLOC1S5, BLOC1S6, BMP4, BTD, LRMDA, C12ORF65, C19ORF12, C1QTNF5, CFAP410, C2CD3, PCARE, CPLANE1, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CASK, CFI, CAPN5, CC2D2A, CCDC28B, CEP83, CCDC51, CCT2, CDH16, CDH23, CDH3, CDHR1, CDK10, CEP104, CEP120, CEP164, CEP19, CEP250, CEP290, CEP41, CEP78, CERKL, CFAP20, CFH, CHM, CIB2, CISD2, CLCC1, CLDN19, CLEC3B, PPT1, TPP1, CLN3, CLN5, CLN6, CLN8, CTSD, CLRN1, CLUAP1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL6A6, COL11A1, COL11A2, COL18A1, COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, COL9A3, CPE, CRB1, CRB2, CRX, CSPP1, CTC1, CTNNA1, CTNNB1, CWC27, CX3CR1, CYP2U1, CYP4V2, DAG1, DCDC2, DCT, WHRN, DHDDS, DHX38, DLG1, DNAJC17, DNAJC19, DNAJC21, DNM1L, DRAM2, DTHD1, DTNBP1, EDN3, EDNRB, EFEMP1, ELOVL4, EMC1, ENSA, ESPN, EXOSC2, EYS, FAM149B1, FAM161A, FBLN5, FBN3, FDXR, FDX2, FLVCR1, FRMD7, FSCN2, FZD4, GDF6, GDPD1, GLIS2, GNAT1, GNAT2, GNB3, GNPTG, ADGRA3, GPR143, GPR179, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, LARGE2, HACE1, HADHA, HARS, HGSNAT, HK1, HKDC1, HMCN1, HMX1, HPS1, HPS3, HPS4, HPS5, HPS6, IDH3A, IDH3B, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT74, IFT80, IFT81, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, IRX1, ITM2B, JAG1, KIAA0556, KCNJ13, KCNV2, KIAA0586, KIAA0753, DOCK6, KIAA1549, KIF3B, KIF11, KIF7, KIF14, KITLG, KIZ, KLHL7, LAMA1, LAMA5, LAMB2, LCA5, LOXL3, LRAT, LRIT3, LRP2, LRP5, LYST, LZTFL1, MAK, MANBA, MAPKAPK3, MAPKBP1, MC1R, MCAT, MCOLN1, MECR, MERTK, MFN2, MFRP, MFSD8, MITF, MKKS, MKS1, MLPH, MMACHC, MTPAP, MTTP, MVK, MYO5A, MYO7A, NBAS, NDP, NDUFS1, NEK1, NEK2, NEK8, NEUROD1, NGLY1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NUMB, NYX, OAT, OCA2, OFD1, OPA1, OPA3, OPN1LW, OPN1SW, OR2W3, OTX2, P3H2, PANK2, PAX3, PAX6, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDXK, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHYH, PIBF1, PITPNM3, PLA2G5, PLK4, PMM2, PNPLA6, POC1B, POC5, POGZ, POLG, POLG2, POMGNT1, PPP2R3C, PRCD, PRDM13, PROKR2, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB27A, RAB28, RAX2, RB1, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHBDD2, RHO, RIMS1, RIMS2, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RRM2B, RS1, RTN4IP1, SAG, SAMD11, SCAPER, SCLT1, SDCCAG8, SEMA4A, SEMA6B, SIX6, SLC24A1, SLC24A2, SLC24A5, SLC25A46, SLC38A8, SLC45A2, SLC4A3, SLC4A4, SLC4A7, SLC37A3, SLC39A12, SLC52A2, SLC6A6, PQLC2, SLC7A14, SMARCA4, SNAI2, SNRNP200, SNX10, SOX10, SOX3, SPATA7, SPG7, SPP2, SRD5A3, SSBP1, STX3, SUFU, TCTN1, TCTN2, TCTN3, TEAD1, TGFBR2, TIMM8A, TIMP3, FAM57B, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOGARAM1, TOPORS, TRAF3IP1, TREX1, TRIM32, TRNT1, TRPM1, TSFM, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TUB, TUBB3, TUBB4B, TUBGCP4, TUBGCP6, TULP1, TXNDC15, TYR, TYRP1, UCHL1, UNC119, USH1C, USH1G, USH2A, USP45, VCAN, VHL, VPS13B, WDPCP, WDR19, WDR34, WFS1, XPNPEP3, YARS, YME1L1, YPEL2, ZNF408, ZNF423, ZNF513, ZNHIT3, C9

Generalized retinal dystrophies – 237 genes

ABCA4, ABHD12, ADAM9, ADGRV1, ADIPOR1, AGBL5, AHR, AIPL1, ALMS1, ARHGEF18, ARL2BP, ARL3, ARL6, ARSG, ATF6, ATP1A3, ATXN7, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, CFAP410, CA4, CABP4, CACNA1F, CACNA2D4, CC2D2A, CCDC28B, CCDC51, CDH23, CDHR1, CEP164, CEP250, CEP290, CEP78, CERKL, CFAP20, C8orf37, CIB2, CLCC1, CLRN1, CLUAP1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL4A3, COL4A4, COL4A5, COL6A6, CRB1, CRB2, CRX, CWC27, CYP4V2, DHDDS, DHX38, DNAJC17, DRAM2, DTHD1, ELOVL4, EMC1, ENSA, ESPN, EXOSC2, EYS, FAM161A, FBN3, FLVCR1, FSCN2, GDF6, GDPD1, GNAT1, GNAT2, GNB3, ADGRA3, GPR179, GRK1, GRM6, GUCA1A, GUCA1B, GUCY2D, HADHA, HARS, HGSNAT, HK1, HKDC1, IDH3A, IDH3B, IFT140, IFT172, IFT27, IFT43, IFT74, IFT81, IMPDH1, IMPG1, IMPG2, IQCB1, JAG1, KCNJ13, KCNV2, KIAA1549, KIF3B, KIZ, KLHL7, LCA5, LRAT, LRIT3, LZTFL1, MAK, MERTK, MFRP, MFSD8, MKKS, MKS1, MTTP, MYO7A, NEK2, NEUROD1, NGLY1, NMNAT1, NPHP1, NPHP4, NR2E3, NRL, NYX, OFD1, OPN1LW, OTX2, PANK2, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PITPNM3, PLA2G5, POC1B, POMGNT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RAB28, RAX2, RBP3, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RRM2B, SAG, SAMD11, SCAPER, SCLT1, SDCCAG8, SEMA4A, SLC24A1, SLC37A3, SLC39A12, SLC4A4, SLC4A7, PQLC2, SLC7A14, SNRNP200, SPATA7, SPP2, SRD5A3, FAM57B, TMEM67, TOPORS, TRAF3IP1, TRIM32, TRNT1, TRPM1, TTC8, TTLL5, TUBB4B, TULP1, UNC119, USH1C, USH1G, USH2A, USP45, WDPCP, WDR19, WDR34, WHRN, YPEL2, ZNF408, ZNF513, CCT2

Retinitis pigmentosa – 107 genes

ABCA4, ABHD12, ADGRA3, ADIPOR1, AGBL5, AHR, AIPL1, ARHGEF18, ARL2BP, ARL3, ARL6, BBS2, BEST1, CC2D2A, CDHR1, CERKL, CFAP20, C8orf37, CLCC1, CLRN1, CNGA1, CNGB1, COL6A6, CRB1, CRB2, CWC27, DHDDS, DHX38, DNAJC17, DTHD1, ENSA, EXOSC2, EYS, FAM161A, FLVCR1, FSCN2, GUCA1B, HGSNAT, HK1, HKDC1, IDH3A, IDH3B, IFT140, IFT172, IFT43, IMPDH1, IMPG1, IMPG2, KIAA1549, KIF3B, KIZ, KLHL7, LRAT, MAK, MERTK, MFRP, MFSD8, NEK2, NR2E3, NRL, OFD1, PANK2, PCARE, PDE6A, PDE6B, PDE6G, POMGNT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RBP3, RDH12, REEP6, RGR, RHO, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, SAG, SAMD11, SCAPER, SEMA4A, SLC24A1, SLC37A3, SLC4A7, PQLC2, SLC7A14, SNRNP200, SPATA7, SPP2, TMEM67, TOPORS, TRNT1, TTC8, TULP1, USH2A, ZNF408, ZNF513

Atypical retinitis pigmentosa – 79 genes

ALMS1, NPHP4, ADGRV1, AIPL1, ARL6, ARSG, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CABP4, CCDC28B, CDH23, CEP164, CEP290, C8orf37, CIB2, CLRN1, CLUAP1, CRB1, CRX, DTHD1, ESPN, FBN3, GDF6, GUCY2D, HARS, IFT140, IFT172, IFT27, IFT74, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, LZTFL1, MKKS, MKS1, MTTP, MYO7A, NMNAT1, NPHP1, OTX2, PCDH15, PDZD7, PEX1, PHYH, PRPH2, RD3, RDH12, RDH5, RHO, RLBP1, RPE65, RPGRIP1, SCAPER, SCLT1, SDCCAG8, SPATA7, TRAF3IP1, TRIM32, TTC8, TUBB4B, TULP1, USH1C, USH1G, USH2A, USP45, WDPCP, WDR19, WHRN, RPGR, SAG

Usher syndrome – 14 genes

ADGRV1, ARSG, CDH23, CIB2, CLRN1, ESPN, HARS, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A, WHRN

Bardet-Biedl syndrome – 29 genes

ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CCDC28B, CDH23, CEP164, CEP290, C8orf37, FBN3, IFT172, IFT27, IFT74, LZTFL1, MKKS, MKS1, SCAPER, SCLT1, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP

Retinitis punctata albescens / Fundus albipunctatus – 4 genes

PRPH2, RDH5, RHO, RLBP1

Leber congenital amaurosis – 27 genes

ALMS1, AIPL1, CABP4, CEP290, CLUAP1, CRB1, CRX, DTHD1, GDF6, GUCY2D, IFT140, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, PRPH2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TUBB4B, TULP1, USP45

Senior-Løken syndrome – 15 genes

CEP164,CEP290,GLIS2,INVS,IQCB1,NEK8,NPHP1,NPHP3,NPHP4,RPGRIP1L,SCLT1,SDCCAG8,TMEM67,TRAF3IP1,WDR19

Alström syndrome – 1 gene

ALMS1

Sector retinitis pigmentosa – 6 genes

CDH23, RDH5, RHO, RPGR, SAG, USH1C

Cone-rod dystrophies – 37 genes

ABCA4, ADAM9, ATP1A3, CA4, CACNA1F, CACNA2D4, CCDC51, CDHR1, CEP250, CEP78, C8orf37, CNNM4, CRX, DRAM2, GUCA1A, GUCY2D, IFT81, KCNV2, PCYT1A, PDE6C, PITPNM3, POC1B, PROM1, RAB28, RAX2, RIMS1, RLBP1, RPGR, RPGRIP1, RRM2B, SEMA4A, SRD5A3, FAM57B, TTLL5, UNC119, WDR34, PDE6H

Stargardt disease – 3 genes

ABCA4, ELOVL4, PROM1

Bietti’s crystalline dystrophy – 1 gene

CYP4V2

Retinopathy associated with Alport syndrome – 3 genes

COL4A5, COL4A3, COL4A4

Benign familial fleck retina – 1 gene

PLA2G5

Congenital stationary night blindness – 17 genes

CACNA1F, GNAT1, GNB3, GPR179, GRK1, GRM6, GUCY2D, LRIT3, NYX, PDE6B, PRPH2, RDH5, RHO, RLBP1, SAG, SLC24A1, TRPM1

Achromatopsia – 9 genes

ATF6, CNGA3, CNGB3, GNAT2, OPN1LW, OPN1MW, PDE6C, PDE6H, OPN1SW

Macular retinal dystrophies – 19 genes

BEST1, CDH3, CLEC3B, CTNNA1, CYP2U1, EFEMP1, GUCY2D, IMPG1, IMPG2, MAPKAPK3, MFSD8, MMACHC, PROM1, PRPH2, RP1L1, SIX6, TIMP3, ELOVL4, ABCA4

Vitelliform macular dystrophy – 19 genes

BEST1, IMPG1, IMPG2, PRPH2

Vitelliform macular dystrophy – 4 genes

BEST1, IMPG1, IMPG2, PRPH2

Retinal pattern dystrophy – 3 genes

CTNNA1, MAPKAPK3, PRPH2

Doyne honeycomb retinal dystrophy – 1 gene

EFEMP1

Central areolar choroidal dystrophy – 2 genes

GUCY2D, PRPH2

Sorsby fundus dystrophy – 1 gene

TIMP3

Hereditary vitreoretinopathies – 27 genes

ARHGAP31, BEST1, BMP4, CAPN5, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, CTNNA1, CTNNB1, DLG1, FZD4, JAG1, KCNJ13, KIF11, LOXL3, LRP5, NDP, NR2E3, RCBTB1, RS1, TGFBR2, TSPAN12, VCAN, ZNF408

Stickler syndrome – 8 genes

BMP4, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, LOXL3

Exudative vitreoretinopathy – 13 genes

ARHGAP31, CTNNA1, CTNNB1, DLG1, FZD4, JAG1, KIF11, LRP5, NDP, RCBTB1, TGFBR2, TSPAN12, ZNF408

Albinism – 31 genes

AP3B1, AP3D1, BLOC1S3, BLOC1S5, BLOC1S6, CACNA1F, DCT, DTNBP1, EDN3, EDNRB, HPS3, HPS4, HPS5, HPS6, KITLG, LRMDA, LYST, MC1R, MITF, MYO5A, OCA2, PAX3, RAB27A, SLC24A5, SLC45A2, SNAI2, SOX10, TYR, TYRP1, GPR143, HPS1

Oculocutaneous albinism – 8 genes

DCT, LRMDA, MC1R, OCA2, SLC24A5, SLC45A2, TYR, TYRP1

Congenital cataracts – 170 genes

ABHD12, ADAMTS18, ADAMTSL4, AGK, ALDH18A1, ANAPC1, ARL2, ARPC4, ATAD3A, BCOR, BFSP1, BFSP2, CAV1, CDH2, CDK5RAP2, CDKL5, CHMP4B, CLPB, COG4, COL11A1, COL18A1, COL4A1, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGA, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CYP21A2, CYP27A1, CYP51A1, DHCR7, DNMBP, DOCK6, DPAGT1, DYNC1H1, EPG5, EPHA2, ERCC1, ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, ETFA, ETFB, ETFDH, EYA1, FAM111A, FAM126A, FAR1, FBLN5, FBXL4, FKTN, FOXE3, FTL, FYCO1, GALE, GALK1, GALM, GALT, GCNT2, GEMIN4, GFER, GJA3, GJA8, GTF2E2, GTF2H5, HMX1, HSF4, HSPG2, IARS2, IFIH1, INPP5K, INTS1, JAM3, KCNA4, KCTD1, LEMD2, LIM2, LMBRD2, LMNA, LONP1, LRP4, LSS, MAF, MAFA, MED25, MED27, MIP, MPLKIP, MSMO1, MYH9, NACC1, NCOA6, NDP, NEU1, NHS, NUP188, OCLN, OCRL, OPA3, P3H2, PANK4, PAX6, PEX1, PEX11B, PEX5, PEX7, PGRMC1, PHGDH, PIGY, PIK3C2A, PISD, PITX3, PLOD3, PNPT1, POLG, POMGNT1, POMT1, POMT2, PSMC3, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RECQL4, RIC1, RNF113A, RNPC3, RRAGA, SC5D, SEC31A, SIL1, SIPA1L3, SIX6, SLC16A12, SLC25A4, SLC33A1, SOX2, SRD5A3, STX3, SUCLG1, TARS, TBC1D20, TDRD7, TELO2, TFAP2A, TKFC, TMEM114, TMEM70, TOR1AIP1, TRAPPC11, TRPM3, UBE2A, UNC45B, VIM, VPS4A, VSX2, WFS1, XYLT2, ZNF526

Ectopia Lentis – 44 genes

AASS, ADAMTS10, ADAMTS17, ADAMTSL4, ASPH, ATP6V0A2, B3GALT6, BAP1, BCOR, C12orf57, CBS, CHRDL1, COL11A1, COL18A1, COL2A1, COL5A1, COL8A2, CPAMD8, CYP1B1, ELP4, FBN1, FBN2, FOXC1, FOXE3, GRHL2, LOXL1, LTBP2, MOCS1, MOCS2, MTHFR, OVOL2, P3H2, PAK2, PAX2, PAX6, PCYT1A, PITX2, PITX3, PORCN, PXDN, SALL2, SUOX, VCAN, ZEB1

Crystalline lens alterations – 24 genes

ADAMTS10, ADAMTS17, ADAMTSL2, COL18A1, COL4A3, COL4A4, COL4A5, COL4A6, CPAMD8, CRYAA, FBN1, FOXE3, GJA8, HMX1, ITPR1, LAMB2, LMX1B, LTBP2, P3H2, PXDN, RAB3GAP1, TONSL, WDR37, WRAP73

Corneal ectasia – 18 genes

AIPL1, COL3A1, COL5A1, ERCC8, FAM50A, FBN2, GNB5, MIR184, PIEZO2, PLOD1, PRDM5, SLC2A10, SLC39A13, SMAD4, TMEM45A, TUBA3D, VSX1, ZNF469

Corneal dystrophies – 32 genes

AGBL1, ALDH18A1, ATP6V0A2, CHST6, COL17A1, COL8A2, CYP4V2, DCN, GRHL2, GSN, KRT12, KRT16, KRT17, KRT3, KRT6A, KRT6B, LCAT, MAB21L1, MBTPS2, MPDZ, OVOL2, PIKFYVE, PLCB3, PRDX3, SLC4A11, TACSTD2, TCF4, TGFBI, UBIAD1, VSX1, ZEB1, ZNF143

Metabolic keratopathies – 16 genes

ARSB, ARSK, ATP7B, CTNS, GALNS, GLA, GLB1, GUSB, HGSNAT, HYAL1, IDS, IDUA, LCAT, NAGLU, SGSH, TAT

MAC (microphthalmia, anophthalmia, coloboma) – 369 genes

AAAS, ABCB6, ACTB, ACTG1, ADNP, AHI1, ALDH1A3, ALDH6A1, ALG2, ALG3, ALX1, ALX3, ARL13B, ARL3, ARMC9, ASPH, ASXL1, ATOH7, ATP6V1A, B3GALNT2, B3GLCT, B4GAT1, B9D1, B9D2, BCOR, BEST1, BMP4, BMP7, BRCA1, BRCA2, BRIP1, BRPF1, C12orf57, C16orf62, C1QTNF5, C2CD3, C5orf42, CAPN15, CASK, CC2D2A, CCDC22, CDK5RAP2, CDKL5, CDON, CENPF, CEP104, CEP120, CEP290, CEP41, CHD7, CHN1, CHUK, CLDN19, COL4A1, COX14, COX7B, CPLX1, CRB1, CREBBP, CRIM1, CRYAA, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CSNK2A1, CSPP1, CTBP1, CTNNB1, DACT1, DAG1, DDX11, DDX59, DEAF1, DHCR7, DHX38, DISP1, DLL1, DOCK6, DOCK7, DPYD, DYRK1A, EBP, EIF3F, ELP4, EOGT, EP300, EPCAM, EPHA2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERF, ESCO2, FADD, FAM111A, FAM149B1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FAT1, FBXO11, FBXW11, FGF3, FGF8, FGFR1, FGFR2, FGFRL1, FIBP, FKBP14, FKRP, FKTN, FLI1, FLNA, FNBP4, FOXC1, FOXE3, FOXH1, FOXL2, FRAS1, FREM1, FREM2, FZD4, FZD5, GAS1, GDF3, GDF6, GJA1, GJA8, GLI2, GMPPA, GMPPB, GRIP1, GSC, GTF2E2, GTF2H5, GZF1, HCCS, HDAC6, HESX1, HHAT, HMGB3, HMX1, HNRNPK, HRAS, HUWE1, HYLS1, IFT74, IGBP1, INPP5E, INTS1, INTU, IPO13, ISPD, KCTD1, KDM6A, KIAA0556, KIAA0586, KIAA0753, KIAA1109, KIF11, KIF14, KIF15, KIF17, KIF1BP, KIF26B, KIF7, KMT2D, KRAS, LARGE1, LCA5, LCP1, LETM1, LMBRD2, LRAT, LRP2, LRP5, MAB21L1, MAB21L2, MAD2L2, MAF, MAFB, MAGEL2, MAN2C1, MAPRE2, MBTPS2, MED12L, MED13L, MFRP, MICU1, MITF, MKS1, MMACHC, MMP14, MMP2, MPDZ, MPLKIP, MYRF, NAA10, NDP, NDUFB11, NELFA, NHS, NIPBL, NMNAT1, NODAL, NOTCH2, NOTCH3, NPHP1, NRAS, NSD2, NUAK2, NUP188, OCLN, OFD1, OLFM2, OSGEP, OTX2, PACS1, PALB2, PAX2, PAX3, PAX6, PCYT1A, PDE6D, PDGFRB, PIBF1, PIGG, PIGL, PIGN, PITX2, PITX3, PLK4, PNPLA6, PNPT1, POGZ, POLR1B, POLR1C, POLR1D, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PORCN, PQBP1, PRIM1, PRMT7, PRPS1, PRR12, PRSS56, PTCH1, PTCH2, PTEN, PUF60, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RAD51, RAD51C, RARB, RAX, RBBP8, RBP4, RERE, RFWD3, RHOA, RIPK4, RNF113A, ROR1, RPE65, RPGRIP1L, RSPO2, RTTN, RXYLT1, SALL1, SALL2, SALL4, SATB2, SEMA3E, SF3B2, SHH, SIN3A, SIX1, SIX3, SIX6, SLC25A24, SLC36A2, SLC38A8, SLC6A19, SLC6A20, SLX4, SMCHD1, SMG9, SMO, SMOC1, SNX3, SOX2, SPATA7, SPECC1L, SPINT2, SPTBN1, SRD5A3, STRA6, SUFU, TARS, TBC1D20, TBC1D23, TBC1D32, TBL1XR1, TBR1, TBX22, TCOF1, TCTN1, TCTN2, TCTN3, TDGF1, TENM3, TFAP2A, TGFB2, TGIF1, TKFC, TMEM107, TMEM138, TMEM216, TMEM218, TMEM231, TMEM237, TMEM67, TMEM98, TMX3, TOGARAM1, TRAPPC11, TRIM37, TRRAP, TTC26, TUBB, TUBGCP4, TXNDC15, UBE2T, UBE3B, VAX1, VPS13B, VSX2, WAC, WASHC5, WDR37, WNT3, WNT7B, XRCC2, YAP1, ZBTB20, ZEB2, ZIC2, ZMIZ1, ZNF423

Primary and secondary glaucoma – 335 genes

ABCA4, ACVR1, ADA2, ADAMTS10, ADAMTS17, ADAMTS3, ADAMTSL1, ADAMTSL4, ADAR, AGBL5, AGK, AHI1, AHR, ALDH1A3, ANGPT1, ANKLE2, ANKRD55, ANTXR1, ARHGEF18, ARL2BP, ARL3, ARL6, ARSB, ASB10, ATOH7, ATR, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GAT1, BBS1, BBS2, BCOR, BEST1, BRD4, BUB1, BUB1B, CANT1, CBS, CCBE1, CCDC22, CCDC28B, CD247, CDH11, CDHR1, CENPE, CENPJ, CEP152, CEP57, CERKL, C8orf37, CHRDL1, CHST14, CHST3, CISD2, CLN3, CLRN1, CNGA1, CNGB1, COL11A1, COL18A1, COL2A1, COL3A1, COL4A1, COL8A2, COX7B, CPAMD8, CRB1, CREBBP, ISPD, CRX, CRYAA, CRYBA2, CRYBB3, CSGALNACT1, CYP1B1, DAG1, DCN, DDX58, DHCR7, DHDDS, DHX38, DNAJC30, DSE, EBP, EFEMP1, ELN, EP300, ESCO2, EXOSC2, EYS, FAM161A, FAM50A, FAS, FAT4, FBN1, FGF10, FGFR2, FGFR3, FKRP, FKTN, FLNA, FOXC1, FOXE3, FREM2, FSCN2, FUT8, FYCO1, FZD4, GATA1, GJA1, GJA8, GJB3, GJB4, GLIS3, GMPPB, GNAQ, GP1BB, GRHL2, GSN, GUCA1B, GUCA1C, GZF1, HCCS, HDAC8, HGSNAT, HMX1, HRAS, IDH3A, IDH3B, IDUA, IFIH1, IFT140, IFT172, IL2RA, IL2RB, IMPDH1, IMPG1, IMPG2, KDSR, KIAA1549, KIF11, KIZ, KLHL7, LARGE1, LMBRD2, LMX1B, LOXL1, LRAT, LRP5, LSM11, LTBP2, MAB21L1, MAF, MAFA, MAG, MAK, MASP1, MERTK, MFRP, MTHFR, MYMK, MYOC, NAA10, NCAPG2, NCF1, NDP, NDUFB11, NEK2, NF1, NFIX, NHS, NIPBL, NLRP3, NOD2, NR2E3, NRL, NTF4, NUP85, OCRL, OFD1, OPA1, OPTN, OTX2, OVOL2, PAX6, PBX1, C2ORF71, PCNT, PDE6A, PDE6B, PDE6G, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PIK3C2A, PIK3R1, PITX2, PITX3, PLK4, PLOD1, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRCD, PRDM5, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PRR12, PRSS56, PTCH1, PTCH2, PTEN, PUS1, PXDN, PYCR1, RAD21, RAX, RBBP8, RBP3, RDH12, RECQL4, REEP6, RGR, RHO, RHOA, RLBP1, RNASEH2A, RNASEH2B, RNASEH2C, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPL11, RPL15, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPS10, RPS15A, RPS19, RPS20, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, RRM2B, RS1, RXYLT1, SAG, SAMHD1, SBF2, SCAPER, SEMA4A, SH3PXD2B, SIX6, SLC25A4, SLC38A8, SLC4A11, SLC4A4, SLC7A14, SMC1A, SMC3, SNRNP200, SOX11, SOX2, SPATA7, STUB1, SUFU, TBC1D20, TBK1, TBX1, TEK, TENM3, TGFB1, TIMP3, TKFC, TMCO1, TMEM98, TOPORS, TRAIP, TREX1, TRIM44, TRIP13, TSR2, TTC8, TUB, TULP1, TWIST1, USH2A, VCAN, VSX1, WASHC5, WDR36, WFS1, WT1, XYLT1, YAP1, YARS2, ZEB1, ZMIZ1, ZNF408, ZNF469, ZNF513, ZSWIM6

Primary congenital glaucoma, juvenile open-angle glaucoma, and glaucoma associated with non-acquired ocular anomalies – 55 genes

ADAMTS10, ADAMTS17, ADAMTSL1, ANGPT1, ANKLE2, ARSB, ASB10, ATOH7, B3GLCT, BEST1, CANT1, CHRDL1, COL18A1, COL4A1, CPAMD8, CREBBP, CYP1B1, DCN, DHCR7, FOXC1, FOXE3, GNAQ, HMX1, LMX1B, LOXL1, LTBP2, MAF, MTHFR, MYOC, NF1, NHS, NTF4, OCRL, OPA1, OPTN, PAX6, PITX2, PITX3, PRR12, PTCH1, PXDN, RPS19, SBF2, SH3PXD2B, SLC38A8, SLC4A11, SLC4A4, TBK1, TBX1, TEK, TENM3, TMCO1, VSX1, WDR36, WT1

Macular degeneration, age-related – 18 genes

ABCA4, APOE, ARMS2, C2, C3, C9, CFB, CFH, CFHR1, CFHR3, CFI, CST3, CX3CR1, ERCC6, FBLN5, HMCN1, HTRA1, RAX2

High myopia – 107 genes

ADAMTS10, ADAMTSL4, AGRN, ARL6, ARR3, ASPH, ASXL1, ATP6V0A2, ATP6V1A, ATP6V1E1, B4GALT1, BAP1, BSG, CACNA1F, PRIMPOL, CNGB3, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, COX7B, CPSF1, CRIPT, CRYAB, CTNND2, CTSH, CYP1B1, CYP4V2, DAG1, DOHH, DPH5, DZIP1, EFEMP1, EFL1, ELOVL4, ERBB3, FBN1, FGFR3, FLRT3, FZD5, GLRA2, GNAT1, GNB3, GPR179, GRM6, GUCY2D, GZF1, HCCS, HERC1, HS6ST2, IPO8, IRX5, KAT5, LAMB2, LOXL3, LRIT3, LRP2, LRPAP1, LTBP2, MAF, MYOC, NDP, NDUFAF7, NDUFB11, NFIX, NMNAT1, NYX, OPA1, OPN1LW, OTX2, P3H2, P4HA2, PAK2, PAX2, PAX6, PDE6B, PDE6H, POC1B, POLR3B, POMGNT1, PRDM5, RAB28, RHO, RIN2, RP2, RPGR, RPL10, SCO2, SLC24A1, SLC35E2B, SLC39A5, SLITRK6, SMS, TBC1D24, TGFBI, TNFRSF21, TRPM1, TTC8, TTLL5, VPS50, XYLT1, ZNF408, ZNF469, ZNF644

Non-syndromic high myopia – 44 genes

AGRN, ARL6, ARR3, BSG, CACNA1F, PRIMPOL, COL11A1, COL2A1, CPSF1, CTNND2, CTSH, DZIP1, FLRT3, FZD5, GLRA2, GNAT1, GNB3, GPR179, GRM6, GUCY2D, LOXL3, LRIT3, LRPAP1, NDP, NDUFAF7, NYX, OPA1, OPN1LW, OTX2, P3H2, P4HA2, PAX6, PDE6B, RHO, RPGR, SCO2, SLC24A1, SLC35E2B, SLC39A5, SLITRK6, TNFRSF21, TRPM1, XYLT1, ZNF644

Congenital cranial dysinnervation disorders – 54 genes

ACKR3, ARX, CCNQ, CDH2, CHN1, COL25A1, CSPP1, DCC, DMPK, DNM1L, ECEL1, FGFR1, FOXL2, GJA5, GJA8, HOXA1, HOXB1, KCNN2, KIAA0586, KIF21A, MAFB, MED13, MN1, MYMK, NEUROG1, NFIX, NSMF, OPA1, PABPN1, PHOX2A, PIEZO2, PIK3C2A, PLXND1, POLG, REV3L, ROBO3, RRM2B, SALL1, SALL4, SLC25A4, STAC3, TBX2, TK2, TMPO, TOGARAM1, TUBA1A, TUBB2B, TUBB3, TWNK, UBA2, WDR26, ZC4H2, ZFHX4, ZMIZ1

Infantile nystagmus – 86 genes

AARS2, ADAR, ATF6, AHR, AIPL1, ALMS1, ARHGEF2, KIDINS220, ATP6V1B2, C12orf57, CABP4, CACNA1F, CASK, CDC42, CEP290, CLUAP1, CNGA3, CNGB3, CRB1, CRX, DCT, DTHD1, EXOSC9, FRMD7, GDF6, GJC2, GNAT2, GPR143, GPR179, GRIK2, GUCY2D, HMX1, HPS3, HPS6, IFT140, IMPDH1, IQCB1, KCNJ13, KRT14, KRT5, LAMB2, LCA5, LRAT, LRMDA, LRP5, LYST, MC1R, NMNAT1, NPC1, NUP62, NYX, OCA2, OPA1, OPN1LW, OTX2, PAX6, PDE6C, PDE6H, PGAP1, PLP1, PRPH2, PRPS1, RD3, RDH12, RPE65, RPGRIP1, RTN4IP1, SLC24A5, SLC38A8, SLC45A2, SLC6A6, SNAP29, SOX10, SPATA7, STXBP1, TBC1D24, TMEM106B, TMEM163, TMEM63A, TUBB3, TUBB4B, TULP1, TYR, TYRP1, USP45, YARS

Leber hereditary optic neuropathy

Mutation detection in mitochondrial genes: m.11778G>A, m.14484T>C, m.3460G>A
MT-ND1, MT-ND6, MT-ND4

Mitochondrial genome – 37 genes

Análisis de los 37 genes del ADNmt y sus variantes asociadas a enfermedad. Se incluye con este estudio la detección de mutaciones puntuales y grandes deleciones, así como la posibilidad de determinar el grado de heteroplasmia en la muestra remitida.

FENOTIPOS RELACIONADOS:
– Neuropatía óptica hereditaria de Leber (LHON)
– Neuropatía, ataxia, retinitis pigmentaria (NARP)
– Oftalmoplejía externa progresiva crónica (CPEO)