Oftalmología

Distrofias de retina y diagnóstico diferencial – 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

Distrofias generalizadas de retina – 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

Retinosis pigmentaria – 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

Retinosis pigmentaria atípica – 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, síndrome – 14 genes

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

Bardet-Biedl, Síndrome – 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

Amaurosis congénita de Leber – 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, síndrome – 15 genes

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

Alstrom, síndrome – 1 gen

ALMS1

Retinosis pigmentaria sectorial – 6 genes

CDH23, RDH5, RHO, RPGR, SAG, USH1C

Distrofias de conos y bastones – 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

Enfermedad de Stargardt – 3 genes

ABCA4, ELOVL4, PROM1

Distrofia cristalina de Bietti – 1 gen

CYP4V2

Retinopatía asociada a síndrome de Alport – 3 genes

COL4A5, COL4A3, COL4A4

Retina moteada familiar benigna – 1 gen

PLA2G5

Ceguera nocturna estacionaria congénita – 17 genes

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

Acromatopsia – 9 genes

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

Distrofias maculares de retina – 19 genes

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

Distrofia macular viteliforme – 19 genes

BEST1, IMPG1, IMPG2, PRPH2

Distrofia macular viteliforme – 4 genes

BEST1, IMPG1, IMPG2, PRPH2

Distrofia en patrón del epitelio pigmentario – 3 genes

CTNNA1, MAPKAPK3, PRPH2

Degeneración retiniana en panal de Doyne – 1 gen

EFEMP1

Distrofia coroidea areolar central – 2 genes

GUCY2D, PRPH2

Distrofia de Sorsby del fondo del ojo – 1 gen

TIMP3

Vitreorretinopatías hereditarias – 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, síndrome – 8 genes

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

Vitreorretinopatía exudativa – 13 genes

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

Albinismo – 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

Albinismo oculo-cutáneo – 8 genes

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

Cataratas congénitas – 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

Anomalías de tamaño y forma del cristalino – 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

Ectasias corneales – 18 genes

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

Distrofias corneales – 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

Queratopatías metabólicas – 16 genes

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

MAC (microftalmia, anoftalmia, 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

Glaucoma primario y secundario – 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

Glaucoma primario congénito, juvenil de ángulo abierto y secundario a anomalías oculares no adquiridas – 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

Degeneración macular asociada a la edad – 18 genes

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

Miopía Magna – 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

Miopía Magna no sindrómica – 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

Trastornos congénitos por denervación craneal – 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

Nistagmo congénito – 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

Atrofia óptica de Leber. Mutaciones genoma mitocondrial

Detección de mutaciones: m.11778G>A , m.11778G>A , m.11778G>A
MT-ND1, MT-ND6, MT-ND4

Genoma mitocondrial – 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)