Un estudio genético oftalmológico diseñado y avalado por genetistas clínicos con más de 10 años de experiencia.

Basado en un panel de secuenciación masiva (Next Generation Sequencing – NGS) que analiza las regiones codificantes de 515 genes asociados con enfermedades oftalmológicas 

Ver listade genes

El futuro de la oftalmología está ligado a la genética

Creemos que la colaboración con los profesionales sanitarios es fundamental para diseñar herramientas genómicas que aporten soluciones a la práctica clínica, por eso escuchamos y nos adaptamos a sus requerimientos.

Mejor diagnóstico

En un 64-74% de pacientes con una enfermedad retiniana se puede identificar la mutación causante de dicha enfermedad.

Además la buena accesibilidad de las estructuras anatómicas y la barrera hemato-retiniana favorece el
uso de terapias avanzadas, que ya son una realidad para muchos pacientes.

Concertar Visita

¿Por qué un test genético oftalmológico?

El estudio genético en las principales patologías hereditarias de retina supone una mejora en la práctica clínica que repercute positivamente en los pacientes

 
qGen Vision
Definición del patrón de herencia de la enfermedad
Confirmación del diagnostico clínico
Posibilidad de conocer mejor el pronóstico
Tratamiento especifico y temprano, incluso presintomático
Mejor acceso a estudios clínicos
Ensayos clínicos activos

515 genes

GeneAssociated Phenotype description OMIM disease ID
ABCA4Cone-rod dystrophy 3604116
ABCA4Fundus flavimaculatus,248200
ABCA4Retinal dystrophy, early-onset severe,248200
ABCA4Retinitis pigmentosa 19601718
ABCA4Stargardt disease 1248200
ABCA4{Macular degeneration, age-related, 2},153800
ABCC6Arterial calcification, generalized, of infancy, 2614473
ABCC6Pseudoxanthoma elasticum,264800
ABCC6Pseudoxanthoma elasticum, forme fruste,177850
ABHD12Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract,612674
ACBD5No OMIM phenotype612674
ACBD5Thrombocytopaenia (Punzo -2010 J Thromb Haemost 8,2085)612674
ACBD5?Cone-rod dystrophy (Abu-Safieh -2013 Genome Res 23,236)612674
ADAM9Cone-rod dystrophy 9612775
ADAMTS18Microcornea, myopic chorioretinal atrophy, and telecanthus,615458
ADIPOR1No OMIM phenotype615458
ADIPOR1syndromic retinitis pigmentosa (Xy -2016 Hum Mutat 37(3):246-249615458
AGBL1Corneal dystrophy, Fuchs endothelial, 8615523
AGBL5Retinitis pigmentosa 75,617023
AGKCataract 38 autosomal recessive,614691
AGKSengers syndrome,212350
AHI1Joubert syndrome-3,608629
AIPL1Cone-rod dystrophy,604393
AIPL1Leber congenital amaurosis 4604393
AIPL1Retinitis pigmentosa, juvenile,604393
ALMS1Alstrom syndrome,203800
AP3B1Hermansky-Pudlak syndrome 2608233
APOPT1Mitochondrial complex IV deficiency,220110
ARL13BJoubert syndrome 8612291
ARL2BPRetinitis pigmentosa with or without situs inversus,615434
ARL3No OMIM phenotype615434
ARL3?Retinitis pigmentosa (Strom -2016 PLoS One 11)615434
ARL6Bardet-Biedl syndrome 3600151
ARL6?Retinitis pigmentosa 55613575
ARL6{Bardet-Biedl syndrome 1 modifier of},209900
ASPHTraboulsi syndrome,601552
ATF6Achromatopsia 7616517
B3GALTLPeters-plus syndrome,261540
BBIP1?Bardet-Biedl syndrome 18615995
BBS1Bardet-Biedl syndrome 1209900
BBS10Bardet-Biedl syndrome 10615987
BBS12Bardet-Biedl syndrome 12615989
BBS2Bardet-Biedl syndrome 2615981
BBS2Retinitis pigmentosa 74616562
BBS4Bardet-Biedl syndrome 4615982
BBS5Bardet-Biedl syndrome 5615983
BBS7Bardet-Biedl syndrome 7615984
BBS9Bardet-Biedl syndrome 9615986
BCORMicrophthalmia, syndromic 2300166
BEST1Bestrophinopathy, autosomal recessive,611809
BEST1Macular dystrophy, vitelliform, 2153700
BEST1Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma,193220
BEST1Retinitis pigmentosa, concentric,613194
BEST1Retinitis pigmentosa-50,613194
BEST1Vitreoretinochoroidopathy,193220
BFSP1Cataract 33611391
BFSP2Cataract 12 multiple types,611597
BLOC1S3Hermansky-Pudlak syndrome 8614077
BLOC1S6Hermansky-pudlak syndrome 9614171
BMP4Microphthalmia, syndromic 6607932
BMP4Orofacial cleft 11600625
C10orf11Albinism, oculocutaneous, type VII,615179
C12orf65Combined oxidative phosphorylation deficiency 7613559
C12orf65Spastic paraplegia 55 autosomal recessive,615035
C19orf12Neurodegeneration with brain iron accumulation 4614298
C19orf12?Spastic paraplegia 43 autosomal recessive,615043
C1QTNF5Retinal degeneration, late-onset, autosomal dominant,605670
C21orf2No OMIM disease605670
C21orf2Retinal dystrophy,early-onset with macular staphyloma (Khan -2015 Br J Ophtalmol 99,1725)605670
C21orf2Cone-rod dystrophy (Abu-Safieh -2013 Genome Res 23,236)605670
C21orf2Jeune syndrome (Wheway -2015 Nat Cell Biol 17,1074)605670
C2orf71Retinitis pigmentosa 54613428
C5orf42Joubert syndrome 17614615
C5orf42Orofaciodigital syndrome VI,277170
C8orf37Cone-rod dystrophy 16614500
C8orf37Retinitis pigmentosa 64614500
CA4Retinitis pigmentosa 17600852
CABP4Cone-rod synaptic disorder, congenital nonprogressive,610427
CACNA1FAland Island eye disease,300600
CACNA1FCone-rod dystrophy, X-linked, 3300476
CACNA1FNight blindness, congenital stationary (incomplete), 2A, X-linked,300071
CACNA2D4Retinal cone dystrophy 4610478
CAPN5Vitreoretinopathy, neovascular inflammatory,193235
CC2D2ACOACH syndrome,216360
CC2D2AJoubert syndrome 9612285
CC2D2AMeckel syndrome 6612284
CCDC41Nephronophthisis 18615862
CDH23Deafness, autosomal recessive 12601386
CDH23Usher syndrome, type 1D,601067
CDH23Usher syndrome, type 1D/F digenic,601067
CDH3Ectodermal dysplasia, ectrodactyly, and macular dystrophy,225280
CDH3Hypotrichosis, congenital, with juvenile macular dystrophy,601553
CDHR1Cone-rod dystrophy 15613660
CDHR1Retinitis pigmentosa 65613660
CEP164Nephronophthisis 15614845
CEP250No OMIM phenotype614845
CEP250Usher syndrome,atypical (Khateb -2014 J Med Genet 51,460)614845
CEP250?Miscarriage, recurrent (Filges -2014 Mol Hum Reprod epub,epub)614845
CEP290Joubert syndrome 5610188
CEP290Leber congenital amaurosis 10611755
CEP290Meckel syndrome 4611134
CEP290Senior-Loken syndrome 6610189
CEP290?Bardet-Biedl syndrome 14615991
CEP41Joubert syndrome 15614464
CEP78No OMIM phenotype614464
CEP78Usher syndrome (Fu et al, -2016 J Med Genet)614464
CERKLRetinitis pigmentosa 26608380
CFHBasal laminar drusen,126700
CFHComplement factor H deficiency,609814
CFH{Hemolytic uremic syndrome, atypical, susceptibility to, 1},235400
CFH{Macular degeneration, age-related, 4},610698
CHMChoroideremia,303100
CHMP4BCataract 31 multiple types,605387
CHST6Macular corneal dystrophy,217800
CIB2Deafness, autosomal recessive 48609439
CIB2Usher syndrome, type IJ,614869
CLN3Ceroid lipofuscinosis, neuronal, 3204200
CLN5Ceroid lipofuscinosis, neuronal, 5256731
CLN6Ceroid lipofuscinosis, neuronal, 6601780
CLN6Ceroid lipofuscinosis, neuronal, Kufs type, adult onset,204300
CLN8Ceroid lipofuscinosis, neuronal, 8600143
CLN8Ceroid lipofuscinosis, neuronal, 8 Northern epilepsy variant,610003
CLRN1Retinitis pigmentosa 61614180
CLRN1Usher syndrome, type 3A,276902
CLUAP1No OMIM phenotype276902
CLUAP1Leber congenital amaurosis (Soens et al, -2016 Genet, Med,)276902
CNGA1Retinitis pigmentosa 49613756
CNGA3Achromatopsia-2,216900
CNGB1Retinitis pigmentosa 45613767
CNGB3Achromatopsia-3,262300
CNGB3Macular degeneration, juvenile,248200
CNNM4Jalili syndrome,217080
COL11A1Fibrochondrogenesis 1228520
COL11A1Marshall syndrome,154780
COL11A1Stickler syndrome, type II,604841
COL11A1{Lumbar disc herniation, susceptibility to},603932
COL11A2Deafness, autosomal dominant 13601868
COL11A2Deafness, autosomal recessive 53609706
COL11A2Fibrochondrogenesis 2614524
COL11A2Otospondylomegaepiphyseal dysplasia,215150
COL11A2Stickler syndrome, type III,184840
COL11A2Weissenbacher-Zweymuller syndrome,277610
COL18A1Knobloch syndrome, type 1267750
COL2A1Achondrogenesis, type II or hypochondrogenesis,200610
COL2A1Avascular necrosis of the femoral head,608805
COL2A1Czech dysplasia,609162
COL2A1Epiphyseal dysplasia, multiple, with myopia and deafness,132450
COL2A1Kniest dysplasia,156550
COL2A1Legg-Calve-Perthes disease,150600
COL2A1Osteoarthritis with mild chondrodysplasia,604864
COL2A1Otospondylomegaepiphyseal dysplasia,215150
COL2A1Platyspondylic skeletal dysplasia, Torrance type,151210
COL2A1SED congenita,183900
COL2A1SMED Strudwick type,184250
COL2A1Spondyloepiphyseal dysplasia, Stanescu type,616583
COL2A1Spondyloperipheral dysplasia,271700
COL2A1Stickler sydrome, type I, nonsyndromic ocular,609508
COL2A1Stickler syndrome, type I,108300
COL2A1Vitreoretinopathy with phalangeal epiphyseal dysplasia108300
COL8A2Corneal dystrophy, Fuchs endothelial, 1136800
COL8A2Corneal dystrophy, posterior polymorphous 2609140
COL9A1Stickler syndrome, type IV,614134
COL9A1/?Epiphyseal dysplasia, multiple, 6614135
COL9A2Epiphyseal dysplasia, multiple, 2600204
COL9A2?Stickler syndrome, type V,614284
COL9A2{Intervertebral disc disease, susceptibility to},603932
CRB1Leber congenital amaurosis 8613835
CRB1Pigmented paravenous chorioretinal atrophy,172870
CRB1Retinitis pigmentosa-12, autosomal recessive,600105
CRXCone-rod retinal dystrophy-2,120970
CRXLeber congenital amaurosis 7613829
CRYAACataract 9 multiple types,604219
CRYABCardiomyopathy, dilated, 1II,615184
CRYABCataract 16 multiple types,613763
CRYABMyopathy, myofibrillar, 2608810
CRYABMyopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related,613869
CRYBA1Cataract 10 multiple types,600881
CRYBA2?Cataract 42115900
CRYBA4Cataract 23610425
CRYBB1Cataract 17 multiple types,611544
CRYBB2Cataract 3 multiple types,601547
CRYBB3Cataract 22 autosomal recessive,609741
CRYGBCataract 39 multiple types, autosomal dominant,615188
CRYGCCataract 2 multiple types,604307
CRYGDCataract 4 multiple types,115700
CRYGSCataract 20 multiple types,116100
CSPP1Joubert syndrome 21615636
CTDP1Congenital cataracts, facial dysmorphism, and neuropathy,604168
CTNNA1Macular dystrophy,patterned,608970
CTNNA1Gastric cancer, diffuse (Majewski -2012 J Pathol epub)608970
CTSDCeroid lipofuscinosis, neuronal, 10610127
CYP1B1Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset,231300
CYP1B1Peters anomaly,604229
CYP4V2Bietti crystalline corneoretinal dystrophy,210370
DCNCorneal dystrophy, congenital stromal,610048
DFNB31Deafness, autosomal recessive 31607084
DFNB31Usher syndrome, type 2D,611383
DHDDSRetinitis pigmentosa 59613861
DHX38No OMIM phenotype613861
DHX38Retinitis pigmentosa,early-onset with macular coloboma (Ajmal -2014 J Med Genet 51,444)613861
DKC1Dyskeratosis congenita, X-linked,305000
DRAM2Cone-rod dystrophy 21616502
DTNBP1Hermansky-Pudlak syndrome 7614076
EFEMP1Doyne honeycomb degeneration of retina,126600
ELOVL4Ichthyosis, spastic quadriplegia, and mental retardation,614457
ELOVL4Stargardt disease 3600110
ELOVL4?Spinocerebellar ataxia 34133190
EPG5Vici syndrome,242840
EPHA2Cataract 6 multiple types,116600
EXOSC2No OMIM phenotype116600
EXOSC2Syndromic retinitis pigmentosa (Di Donato -2016 J Med Genet 53,419)116600
EYA1Anterior segment anomalies with or without cataract,113650
EYA1Branchiootic syndrome 1602588
EYA1Branchiootorenal syndrome 1 with or without cataracts,113650
EYA1?Otofaciocervical syndrome,166780
EYSRetinitis pigmentosa 25602772
FA2HSpastic paraplegia 35 autosomal recessive,612319
FAM161ARetinitis pigmentosa 28606068
FLVCR1Ataxia, posterior column, with retinitis pigmentosa,609033
FOXC1Axenfeld-Rieger syndrome, type 3602482
FOXC1Iridogoniodysgenesis, type 1601631
FOXC1Iris hypoplasia and glaucoma,601631
FOXC1Rieger or Axenfeld anomalies,602482
FOXE3Anterior segment mesenchymal dysgenesis,107250
FOXE3Aphakia, congenital primary,610256
FRMD7Nystagmus 1 congenital, X-linked,310700
FRMD7Nystagmus, infantile periodic alternating, X-linked,310700
FTLHyperferritinemia-cataract syndrome,600886
FTLL-ferritin deficiency, dominant and recessive,615604
FTLNeurodegeneration with brain iron accumulation 3606159
FYCO1Cataract 18 autosomal recessive,610019
FZD4Exudative vitreoretinopathy 1133780
FZD4Retinopathy of prematurity,133780
GALK1Galactokinase deficiency with cataracts,230200
GALTGalactosemia,230400
GCNT2Adult i phenotype without cataract,110800
GCNT2Cataract 13 with adult i phenotype,116700
GCNT2[Blood group, Ii],110800
GDF3Klippel-Feil syndrome 3 autosomal dominant,613702
GDF3Microphthalmia with coloboma 6613703
GDF3Microphthalmia, isolated 7613704
GDF6Klippel-Feil syndrome 1 autosomal dominant,118100
GDF6Leber congenital amaurosis 17615360
GDF6Microphthalmia with coloboma 6 digenic,613703
GDF6Microphthalmia, isolated 4613094
GFERMyopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613094
GFERMyopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076
GJA1Atrioventricular septal defect 3600309
GJA1Craniometaphyseal dysplasia, autosomal recessive,218400
GJA1Erythrokeratodermia variabilis et progressiva,133200
GJA1Hypoplastic left heart syndrome 1241550
GJA1Oculodentodigital dysplasia,164200
GJA1Oculodentodigital dysplasia, autosomal recessive,257850
GJA1Palmoplantar keratoderma with congenital alopecia,104100
GJA1Syndactyly, type III,186100
GJA3Cataract 14 multiple types,601885
GJA8Cataract 1 multiple types,116200
GNAT1Night blindness, congenital stationary, autosomal dominant 3610444
GNAT1?Night blindness, congenital stationary, type 1G,616389
GNAT2Achromatopsia-4,613856
GNB3Night blindness, congenital stationary, type 1H,617024
GNB3{Hypertension, essential, susceptibility to},145500
GNPTGMucolipidosis III gamma,252605
GPR143Nystagmus 6 congenital, X-linked,300814
GPR143Ocular albinism, type I, Nettleship-Falls type,300500
GPR179Night blindness, congenital stationary (complete), 1E, autosomal recessive,614565
GPR98Usher syndrome, type 2C,605472
GPR98Usher syndrome, type 2C, GPR98/PDZD7 digenic,605472
GPR98?Febrile seizures, familial, 4604352
GRK1Oguchi disease-2,613411
GRM6Night blindness, congenital stationary (complete), 1B, autosomal recessive,257270
GRNAphasia, primary progressive,607485
GRNCeroid lipofuscinosis, neuronal, 11614706
GRNFrontotemporal lobar degeneration with ubiquitin-positive inclusions,607485
GSNAmyloidosis, Finnish type,105120
GUCA1ACone dystrophy-3,602093
GUCA1ACone-rod dystrophy 14602093
GUCA1BRetinitis pigmentosa 48613827
GUCY2DCone-rod dystrophy 6601777
GUCY2DLeber congenital amaurosis 1204000
HARSCharcot-Marie-Tooth disease, axonal, type 2W,616625
HARSUsher syndrome type 3B,614504
HCCSLinear skin defects with multiple congenital anomalies 1309801
HGSNATMucopolysaccharidosis type IIIC (Sanfilippo C),252930
HGSNATRetinitis pigmentosa 73616544
HK1Hemolytic anemia due to hexokinase deficiency,235700
HK1Neuropathy, hereditary motor and sensory, Russe type,605285
HK1Retinitis pigmentosa (Wang -2014 Invest Ophthalmol Vis Sci 55,7159)605285
HMX1Oculoauricular syndrome,612109
HPS1Hermansky-Pudlak syndrome 1203300
HPS4Hermansky-Pudlak syndrome 4614073
HPS5Hermansky-Pudlak syndrome 5614074
HPS6Hermansky-Pudlak syndrome 6614075
HSF4Cataract 5 multiple types,116800
IDH3BRetinitis pigmentosa 46612572
IFT140Short-rib thoracic dysplasia 9 with or without polydactyly,266920
IFT172Retinitis pigmentosa 71616394
IFT172Short-rib thoracic dysplasia 10 with or without polydactyly,615630
IFT27?Bardet-Biedl syndrome 19615996
IMPDH1Leber congenital amaurosis 11613837
IMPDH1Retinitis pigmentosa 10180105
IMPG1Macular dystrophy, vitelliform, 4616151
IMPG2Macular dystrophy, vitelliform, 5616152
IMPG2Retinitis pigmentosa 56613581
INPP5EJoubert syndrome 1213300
INPP5EMental retardation, truncal obesity, retinal dystrophy, and micropenis,610156
INVSNephronophthisis 2 infantile,602088
IQCB1Senior-Loken syndrome 5609254
JAG1Alagille syndrome,118450
JAG1Tetralogy of Fallot,187500
JAG1?Deafness, congenital heart defects, and posterior embryotoxon187500
JAM3Hemorrhagic destruction of the brain, subependymal calcification, and cataracts,613730
KCNJ13Leber congenital amaurosis 16614186
KCNJ13Snowflake vitreoretinal degeneration,193230
KCNV2Retinal cone dystrophy 3B,610356
KERACornea plana congenita, recessive,217300
KIF11Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation,152950
KIF7Acrocallosal syndrome,200990
KIF7Joubert syndrome 12200990
KIF7?Al-Gazali-Bakalinova syndrome,607131
KIF7?Hydrolethalus syndrome 2614120
KIZRetinitis pigmentosa 69615780
KLHL7Cold induced sweating syndrome 3617055
KLHL7Retinitis pigmentosa 42612943
KRT12Meesmann corneal dystrophy,122100
KRT3Meesmann corneal dystrophy,122100
LAMA1Poretti-Boltshauser syndrome,615960
LCA5Leber congenital amaurosis 5604537
LEMD2Cataract 46 juvenile-onset,212500
LEPREL1Myopia, high, with cataract and vitreoretinal degeneration,614292
LIM2Cataract 19 multiple types,615277
LRATLeber congenital amaurosis 14613341
LRATRetinal dystrophy, early-onset severe,613341
LRATRetinitis pigmentosa, juvenile,613341
LRIT3Night blindness, congenital stationary (complete), 1F, autosomal recessive,615058
LRP5Exudative vitreoretinopathy 4601813
LRP5Hyperostosis, endosteal,144750
LRP5Osteopetrosis, autosomal dominant 1607634
LRP5Osteoporosis-pseudoglioma syndrome,259770
LRP5Osteosclerosis,144750
LRP5van Buchem disease, type 2607636
LRP5[Bone mineral density variability 1],601884
LRP5{Osteoporosis},166710
LSSCataract 44616509
LYSTChediak-Higashi syndrome,214500
LZTFL1Bardet-Biedl syndrome 17615994
MAB21L2Microphthalmia, syndromic 14615877
MAFAyme-Gripp syndrome,601088
MAFCataract 21 multiple types,610202
MAKRetinitis pigmentosa 62614181
MAPKAPK3No OMIM phenotype614181
MAPKAPK3Martinique crinkled retinal pigment epitheliopathy (Meunier -2016 Hum Mol Gene 25,916)614181
MERTKRetinitis pigmentosa 38613862
MFN2Charcot-Marie-Tooth disease, type 2A2,609260
MFN2Hereditary motor and sensory neuropathy VIA,601152
MFRPMicrophthalmia, isolated 5611040
MFRPNanophthalmos 2609549
MFSD8Ceroid lipofuscinosis, neuronal, 7610951
MFSD8Macular dystrophy with central cone involvement,616170
MIPCataract 15 multiple types,615274
MIPMIR184 NC NC NC EDICT syndrome,614303
MITFTietz albinism-deafness syndrome,103500
MITFWaardenburg syndrome, type 2A,193510
MITFWaardenburg syndrome/ocular albinism, digenic,103470
MITF{Melanoma, cutaneous malignant, susceptibility to, 8},614456
MKKSBardet-Biedl syndrome 6605231
MKKSMcKusick-Kaufman syndrome,236700
MKS1Bardet-Biedl syndrome 13615990
MKS1Meckel syndrome 1249000
MVKHyper-IgD syndrome,260920
MVKMevalonic aciduria,610377
MVKPorokeratosis 3 multiple types,175900
MYO7ADeafness, autosomal dominant 11601317
MYO7ADeafness, autosomal recessive 2600060
MYO7AUsher syndrome, type 1B,276900
MYOCGlaucoma 1A, primary open angle,137750
NAA10Ogden syndrome,300855
NAA10?Microphthalmia, syndromic 1309800
NBASInfantile liver failure syndrome 2616483
NBASShort stature, optic nerve atrophy, and Pelger-Huet anomaly,614800
NDPExudative vitreoretinopathy 2 X-linked,305390
NDPNorrie disease,310600
NEK2?Retinitis pigmentosa 67615565
NEUROD1Maturity-onset diabetes of the young 6606394
NEUROD1{Diabetes mellitus, noninsulin-dependent},125853
NEUROD1Retinitis pigmentosa, autosomal recessive (Wang -2015 Invest Ophthalmol Vis Sci 56,150)125853
NHSCataract 40 X-linked,302200
NHSNance-Horan syndrome,302350
NMNAT1Leber congenital amaurosis 9608553
NPHP1Joubert syndrome 4609583
NPHP1Nephronophthisis 1 juvenile,256100
NPHP1Senior-Loken syndrome-1,266900
NPHP3Meckel syndrome 7267010
NPHP3Nephronophthisis 3604387
NPHP3Renal-hepatic-pancreatic dysplasia 1208540
NPHP4Nephronophthisis 4606966
NPHP4Senior-Loken syndrome 4606996
NR2E3Enhanced S-cone syndrome,268100
NR2E3Retinitis pigmentosa 37611131
NR2F1Bosch-Boonstra-Schaaf optic atrophy syndrome,615722
NRLRetinal degeneration, autosomal recessive, clumped pigment type615722
NRLRetinitis pigmentosa 27613750
NYXNight blindness, congenital stationary (complete), 1A, X-linked,310500
OATGyrate atrophy of choroid and retina with or without ornithinemia,258870
OCA2Albinism, brown oculocutaneous,203200
OCA2Albinism, oculocutaneous, type II,203200
OCA2[Skin/hair/eye pigmentation 1 blond/brown hair],227220
OCA2[Skin/hair/eye pigmentation 1 blue/nonblue eyes],227220
OFD1Joubert syndrome 10300804
OFD1Orofaciodigital syndrome I,311200
OFD1Simpson-Golabi-Behmel syndrome, type 2300209
OFD1?Retinitis pigmentosa 23300424
OPA1Behr syndrome,210000
OPA1Optic atrophy 1165500
OPA1Optic atrophy plus syndrome,125250
OPA1?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type),616896
OPA1{Glaucoma, normal tension, susceptibility to},606657
OPA33-methylglutaconic aciduria, type III,258501
OPA3Optic atrophy 3 with cataract,165300
OPN1LWBlue cone monochromacy,303700
OPN1LWColorblindness, protan,303900
OPN1MWBlue cone monochromacy,303700
OPN1MWColorblindness, deutan,303800
OTX2Microphthalmia, syndromic 5610125
OTX2Pituitary hormone deficiency, combined, 6613986
OTX2Retinal dystrophy, early-onset, with or without pituitary dysfunction,610125
PANK2HARP syndrome,607236
PANK2Neurodegeneration with brain iron accumulation 1234200
PAX2Glomerulosclerosis, focal segmental, 7616002
PAX2Papillorenal syndrome,120330
PAX6Aniridia,106210
PAX6Cataract with late-onset corneal dystrophy,106210
PAX6Coloboma of optic nerve,120430
PAX6Coloboma, ocular,120200
PAX6Foveal hypoplasia 1136520
PAX6Keratitis,148190
PAX6Optic nerve hypoplasia,165550
PAX6Peters anomaly,604229
PAX6?Morning glory disc anomaly,120430
PCDH15Deafness, autosomal recessive 23609533
PCDH15Usher syndrome, type 1D/F digenic,601067
PCDH15Usher syndrome, type 1F,602083
PCYT1ASpondylometaphyseal dysplasia with cone-rod dystrophy,608940
PDE6ARetinitis pigmentosa 43613810
PDE6BNight blindness, congenital stationary, autosomal dominant 2163500
PDE6BRetinitis pigmentosa-40,613801
PDE6CCone dystrophy 4613093
PDE6D?Joubert syndrome 22615665
PDE6GRetinitis pigmentosa 57613582
PDE6HAchromatopsia 6610024
PDE6HRetinal cone dystrophy 3610024
PDZD7Usher syndrome, type IIC, GPR98/PDZD7 digenic,605472
PDZD7{Retinal disease in Usher syndrome type IIA, modifier of},276901
PET100Mitochondrial complex IV deficiency,220110
PEX1Heimler syndrome 1234580
PEX1Peroxisome biogenesis disorder 1A (Zellweger),214100
PEX1Peroxisome biogenesis disorder 1B (NALD/IRD),601539
PEX2Peroxisome biogenesis disorder 5A (Zellweger),614866
PEX2Peroxisome biogenesis disorder 5B,614867
PEX7Peroxisome biogenesis disorder 9B,614879
PEX7Rhizomelic chondrodysplasia punctata, type 1215100
PGK1Phosphoglycerate kinase 1 deficiency,300653
PHYHRefsum disease,266500
PIKFYVECorneal fleck dystrophy,121850
PITX2Axenfeld-Rieger syndrome, type 1180500
PITX2Iridogoniodysgenesis, type 2137600
PITX2Peters anomaly,604229
PITX2Ring dermoid of cornea,180550
PITX3Anterior segment mesenchymal dysgenesis,107250
PITX3Cataract 11 multiple types,610623
PITX3Cataract 11 syndromic,610623
PLA2G5[Fleck retina, familial benign],228980
PLK4Microcephaly and chorioretinopathy, autosomal recessive, 2616171
PNPLA6Boucher-Neuhauser syndrome,215470
PNPLA6Oliver-McFarlane syndrome,275400
PNPLA6Spastic paraplegia 39 autosomal recessive,612020
PNPLA6?Laurence-Moon syndrome,245800
POC1BCone-rod dystrophy 20615973
POMGNT1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3253280
POMGNT1Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3613151
POMGNT1Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3613157
PPT1Ceroid lipofuscinosis, neuronal, 1256730
PRCDRetinitis pigmentosa 36610599
PROM1Cone-rod dystrophy 12612657
PROM1Macular dystrophy, retinal, 2608051
PROM1Retinitis pigmentosa 41612095
PROM1Stargardt disease 4603786
PRPF3Retinitis pigmentosa 18601414
PRPF31Retinitis pigmentosa 11600138
PRPF4Retinitis pigmentosa 70615922
PRPF6Retinitis pigmentosa 60613983
PRPF8Retinitis pigmentosa 13600059
PRPH2Choriodal dystrophy, central areolar 2613105
PRPH2Leber congenital amaurosis 18608133
PRPH2Macular dystrophy, patterned, 1169150
PRPH2Macular dystrophy, vitelliform, 3608161
PRPH2Retinitis pigmentosa 7 and digenic,608133
PRPH2Retinitis punctata albescens,136880
PRSS56Microphthalmia, isolated 6613517
PXDNCorneal opacification and other ocular anomalies,269400
RAB28Cone-rod dystrophy 18615374
RARBMicrophthalmia, syndromic 12615524
RAX2?Macular degeneration, age-related, 6613757
RAX2Cone-rod dystrophy 11610381
RBP3?Retinitis pigmentosa 66615233
RBP4Microphthalmia, isolated, with coloboma 10616428
RBP4Retinal dystrophy, iris coloboma, and comedogenic acne syndrome,615147
RCBTB1[Beta-glycopyranoside tasting]615147
RCBTB1{Alcohol dependence, susceptibility to},103780
RD3Leber congenital amaurosis 12610612
RDH11?Retinal dystrophy, juvenile cataracts, and short stature syndrome,616108
RDH12Leber congenital amaurosis 13612712
RDH5Fundus albipunctatus,136880
RGRRetinitis pigmentosa 44613769
RGS9Bradyopsia,608415
RGS9BPBradyopsia,608415
RHONight blindness, congenital stationary, autosomal dominant 1610445
RHORetinitis pigmentosa 4 autosomal dominant or recessive,613731
RHORetinitis punctata albescens,136880
RIMS1Cone-rod dystrophy 7603649
RLBP1Bothnia retinal dystrophy,607475
RLBP1Fundus albipunctatus,136880
RLBP1Newfoundland rod-cone dystrophy,607476
RLBP1Retinitis punctata albescens,136880
ROM1Retinitis pigmentosa 7 digenic,608133
RP1Retinitis pigmentosa 1180100
RP1L1Occult macular dystrophy,613587
RP2Retinitis pigmentosa 2312600
RP9?Retinitis pigmentosa 9180104
RPE65Leber congenital amaurosis 2204100
RPE65Retinitis pigmentosa 20613794
RPGRCone-rod dystrophy, X-linked, 1304020
RPGRMacular degeneration, X-linked atrophic,300834
RPGRRetinitis pigmentosa 3300029
RPGRRetinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness,300455
RPGRIP1Cone-rod dystrophy 13608194
RPGRIP1Leber congenital amaurosis 6613826
RPGRIP1LCOACH syndrome,216360
RPGRIP1LJoubert syndrome 7611560
RPGRIP1LMeckel syndrome 5611561
RS1Retinoschisis,312700
RTN4IP1Optic atrophy 10 with or without ataxia, mental retardation, and seizures,616732
SAGOguchi disease-1,258100
SAGRetinitis pigmentosa 47613758
SDCCAG8Bardet-Biedl syndrome 16615993
SDCCAG8Senior-Loken syndrome 7613615
SEMA4ACone-rod dystrophy 10610283
SEMA4ARetinitis pigmentosa 35610282
SHHHoloprosencephaly-3,142945
SHHMicrophthalmia with coloboma 5611638
SHHSchizencephaly,269160
SHHSingle median maxillary central incisor,147250
SIPA1L3?Cataract 45616851
SIX6Optic disc anomalies with retinal and/or macular dystrophy,212550
SLC16A12Cataract, juvenile, with microcornea and glucosuria,612018
SLC24A1Night blindness, congenital stationary (complete), 1D, autosomal recessive,613830
SLC24A5Albinism, oculocutaneous, type VI,113750
SLC24A5[Skin/hair/eye pigmentation 4 fair/dark skin],113750
SLC25A46Neuropathy, hereditary motor and sensory, type VIB,616505
SLC33A1Congenital cataracts, hearing loss, and neurodegeneration,614482
SLC33A1Spastic paraplegia 42 autosomal dominant,612539
SLC38A8Foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis,612539
SLC38A8Foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis,609218
SLC45A2Albinism, oculocutaneous, type IV,606574
SLC45A2[Skin/hair/eye pigmentation 5 black/nonblack hair],227240
SLC45A2[Skin/hair/eye pigmentation 5 dark/fair skin],227240
SLC45A2[Skin/hair/eye pigmentation 5 dark/light eyes],227240
SLC4A11Corneal dystrophy, Fuchs endothelial, 4613268
SLC4A11Corneal endothelial dystrophy 2 autosomal recessive,217700
SLC4A11Corneal endothelial dystrophy and perceptive deafness,217400
SLC52A2Brown-Vialetto-Van Laere syndrome 2614707
SLC7A14Retinitis pigmentosa 68615725
SNRNP200Retinitis pigmentosa 33610359
SOX2Microphthalmia, syndromic 3206900
SOX2Optic nerve hypoplasia and abnormalities of the central nervous system,206900
SPATA7Leber congenital amaurosis 3604232
SPATA7Retinitis pigmentosa, juvenile, autosomal recessive,604232
SPP2No OMIM phenotype604232
SPP2Retinitis pigmentosa (Li -2015 Sci Rep 5,14867)604232
SPP2?Autism (Neale -2012 Nature 485,242)604232
STRA6Microphthalmia, isolated, with coloboma 8601186
STRA6Microphthalmia, syndromic 9601186
TACSTD2Corneal dystrophy, gelatinous drop-like,204870
TCTN1Joubert syndrome 13614173
TCTN3Joubert syndrome 18614815
TCTN3Orofaciodigital syndrome IV,258860
TDRD7Cataract 36613887
TEAD1Sveinsson choreoretinal atrophy,108985
TENM3Microphthalmia, isolated, with coloboma 9615145
TGFBICorneal dystrophy, Avellino type,607541
TGFBICorneal dystrophy, epithelial basement membrane,121820
TGFBICorneal dystrophy, Groenouw type I,121900
TGFBICorneal dystrophy, lattice type I,122200
TGFBICorneal dystrophy, lattice type IIIA,608471
TGFBICorneal dystrophy, Reis-Bucklers type,608470
TGFBICorneal dystrophy, Thiel-Behnke type,602082
TIMM8AJensen syndrome,311150
TIMM8AMohr-Tranebjaerg syndrome,304700
TIMP3Sorsby fundus dystrophy,136900
TMEM126AOptic atrophy 7612989
TMEM138Joubert syndrome 16614465
TMEM231Joubert syndrome 20614970
TMEM231Meckel syndrome 11615397
TMEM237Joubert syndrome 14614424
TMEM67COACH syndrome,216360
TMEM67Joubert syndrome 6610688
TMEM67Meckel syndrome 3607361
TMEM67Nephronophthisis 11613550
TMEM67{Bardet-Biedl syndrome 14 modifier of},615991
TOPORSRetinitis pigmentosa 31609923
TPP1Ceroid lipofuscinosis, neuronal, 2204500
TPP1Spinocerebellar ataxia, autosomal recessive 7609270
TRAF3IP1Senior-Loken syndrome 9616629
TREX1Aicardi-Goutieres syndrome 1 dominant and recessive,225750
TREX1Chilblain lupus,610448
TREX1Vasculopathy, retinal, with cerebral leukodystrophy,192315
TREX1{Systemic lupus erythematosus, susceptibility to},152700
TRIM32Muscular dystrophy, limb-girdle, type 2H,254110
TRIM32?Bardet-Biedl syndrome 11615988
TRNT1Retinitis pigmentosa and erythrocytic microcytosis,616959
TRNT1Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay,616084
TRPM1Night blindness, congenital stationary (complete), 1C, autosomal recessive,613216
TSPAN12Exudative vitreoretinopathy 5613310
TTC8Bardet-Biedl syndrome 8615985
TTC8?Retinitis pigmentosa 51613464
TTLL5Cone-rod dystrophy 19615860
TUB?Retinal dystrophy and obesity,616188
TUBGCP4Microcephaly and chorioretinopathy, autosomal recessive, 3616335
TULP1Leber congenital amaurosis 15613843
TULP1Retinitis pigmentosa 14600132
TYRAlbinism, oculocutaneous, type IA,203100
TYRAlbinism, oculocutaneous, type IB,606952
TYRWaardenburg syndrome/albinism, digenic,103470
TYR[Skin/hair/eye pigmentation 3 blue/green eyes],601800
TYR[Skin/hair/eye pigmentation 3 light/dark/freckling skin],601800
TYR{Melanoma, cutaneous malignant, susceptibility to, 8},601800
TYRP1Albinism, oculocutaneous, type III,203290
TYRP1[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)],612271
UBIAD1Corneal dystrophy, Schnyder type,121800
UNC119?Cone-rod dystrophy121800
UNC119?Immunodeficiency 13615518
UNC45B?Cataract 43616279
USH1CDeafness, autosomal recessive 18A,602092
USH1CUsher syndrome, type 1C,276904
USH1GUsher syndrome, type 1G,606943
USH2ARetinitis pigmentosa 39613809
USH2AUsher syndrome, type 2A,276901
VAX1?Microphthalmia, syndromic 11614402
VCANWagner syndrome 1143200
VIM?Cataract 30 pulverulent,116300
VSX1Keratoconus 1148300
VSX1?Craniofacial anomalies and anterior segment dysgenesis syndrome,614195
VSX2Microphthalmia with coloboma 3610092
VSX2Microphthalmia, isolated 2610093
WDPCP?Bardet-Biedl syndrome 15615992
WDPCP?Congenital heart defects, hamartomas of tongue, and polysyndactyly,217085
WDR19Nephronophthisis 13614377
WDR19Senior-Loken syndrome 8616307
WDR19?Cranioectodermal dysplasia 4614378
WDR19?Short-rib thoracic dysplasia 5 with or without polydactyly,614376
WFS1Deafness, autosomal dominant 6/14/38,600965
WFS1Wolfram syndrome,222300
WFS1Wolfram-like syndrome, autosomal dominant,614296
WFS1?Cataract 41116400
WFS1{Diabetes mellitus, noninsulin-dependent, association with},125853
WRNWerner syndrome,277700
YAP1Coloboma, ocular,120433
YAP1Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation,120433
YAP1Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation,120433
ZEB1Corneal dystrophy, Fuchs endothelial, 6613270
ZEB1Corneal dystrophy, posterior polymorphous, 3609141
ZNF408Retinitis pigmentosa 72616469
ZNF408?Exudative vitreoretinopathy 6616468
ZNF423Joubert syndrome 19614844
ZNF423Nephronophthisis 14614844
ZNF513Retinitis pigmentosa 58613617
ZNF644Myopia 21 autosomal dominant,614167

Diagnóstico genético de las patologías oftalmológicas

Convierte el avance genómico en una mejora de la práctica clínica para las principales patologías oftalmológicas

Retinitis pigmentosa

Las RPs son un grupo de patologías con una alta heterogeneidad feno- y genotípica. Identificar la mutación causante es esencial para el diagnóstico preciso, exactitud del pronóstico y puede abrir acceso a ensayos clínicos para el paciente, además de permitir un diagnóstico temprano a otros familiares.

Enfermedad de Stargardt

Se han descrito +800 mutaciones en el gen ABCA4, que causan una gran variabilidad fenotípica de la enfermedad; con patrones, por lo general, recesivos pero también algunos dominantes. Identificar la mutación es esencial para el diagnóstico y para una planificación familiar adecuada.

Amaurosis congénita de Leber

En Diciembre de 2017 la FDA aprobó la primer terapia génica in vivo para pacientes de LCA o RP causada por defectos en el gen RPE65. En Europa hay actualmente más de 40 ensayos clínicos abiertos para enfermedades del ojo, muchos de ellos actualmente reclutando pacientes con mutaciones específicas como causa de la patología.

Glaucoma

En un contexto de historia familiar de glaucoma, la identificación presintomática de mutaciones causantes, abre opciones para un tratamiento temprano y dirigido, lo que puede ayudar a limitar la pérdida de visión e identificar la elegibilidad del paciente para estudios clínicos.

Neuropatías del nervio óptico

El diagnóstico genético puede ayudar identificar la patología concreta dentro de la familia de las neuropatías de nervio óptico, además de diferenciar éstas de otras patologías, incluso en estado pre-sintomático.

Ensayos clínicos activos en la red europea de enfermedades oculares raras

Retinosis pigmentaria

Una escalada de dosis, ensayo clínico de fase 1/2 de la terapia génica de la retina para la retinosis pigmentaria ligada al X mediante un vector viral adenoasociado (AAV8) que codifica el regulador de la GTPasa de retinosis pigmentaria (RPGR)

XOLARIS – Historia natural de la progresión de la retinosis pigmentaria ligada al X (retinosis pigmentaria ligada a X, Alemania)

XOLARIS – Historia natural de la progresión de la retinosis pigmentaria ligada al X (retinosis pigmentaria ligada a X, Francia)

XOLARIS – Historia natural de la progresión de la retinosis pigmentaria ligada al X (retinosis pigmentaria ligada a X, Reino Unido)

XIRIUS (RP enlazado a X)

Tasa de progresión en la degeneración retiniana relacionada con la USH2A (RUSH2A) (retinosis pigmentaria, síndrome de Usher)

Retinosis pigmentaria: diagnóstico molecular mediante secuenciación de próxima generación (distrofia retiniana hereditaria)

Manejo terapéutico de pacientes con edema macular cistoide secundario (retinosis pigmentaria)

Estudio de la eficacia y seguridad de QLT091001 en sujetos con enfermedad hereditaria de la retina (IRD) causada por mutación en la proteína del epitelio pigmentario de la retina 65 (RPE65) o lecitina: lecitin-retinol aciltransferasa (LRAT) (retinosis pigmentaria; enfermedad retiniana hereditaria causada por mutación en RPE65) Genes LRAT)

VITAL (síndrome de USHER inducido por mutación de MYO7A y retinotosis pigmentaria)

Argus® II Protocolo de viabilidad del sistema de estimulación retiniana (retinotosis pigmentaria)

Sistema de prótesis retiniana Argus® II: estudio posterior a la comercialización (retinotosis pigmentaria)

Estudio de UshStat en pacientes con retinosis pigmentaria asociada al síndrome de Usher tipo 1B (retinosis pigmentaria asociada al síndrome de Usher tipo 1B)

Implicación clínica del diagnóstico molecular de retinosis pigmentaria mediante secuenciación de alto rendimiento (RP-SEQ-HD)

Contacta con nosotros

Sabemos que tras cada muestra hay un médico preocupado por la salud de su paciente y un paciente y familiares que esperan respuestas.

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