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They represent more than one-third of the genetic diseases and syndromes known to affect humans:
In most cases only the retina is clinically affected. Symptoms are characterized by night
blindness and slowly progressive loss of central vision from about the age of 20.
Hereditary eye disorders occur in several diseases with overlapping symptoms, such as
Retinitis Pigmentosa (RP), Leber’s Congenital Amaurosis (LCA), Stargardt Disease, Usher Syndrome (USH), Bardet-Biedl Syndrome (BBS) and Senior-Løken Syndrome.
Early identification of individuals at risk can help establish the right clinical management
plan.
The presence of a particular ocular sign of a specific systemic disease is often the deciding factor in confirming the diagnosis of that disease. For example:
- Dislocated eye lens confirms Marfan’s syndrome
- Characteristic red spot in the eye is associated with Tay-Sachs diseases
- Blue sclera suggests Osteogenesis Imperfecta
- Aniridia indicates WAGR syndrome
Rapid advances in testing technologies have allowed clinicians to consider genetic testing upfront both to confirm the clinical diagnosis as well as to understand disease mechanisms.
A confirmed diagnosis is the first step in management and allows discussion of measures to prevent recurrences (applicable only for monogenic disorders) both for the couple as well as their respective families.
Please reach us at contact@genatechs.com if you cannot find the test you are searching for.
Due to advances in molecular genetics and sequencing methods, there has been an exponential increase in the knowledge of genetic eye diseases and syndromes.
ABCA4, ABHD12, ACBD5, ACO2, ADAM9, ADAMTS18, AHI1, AIPL1, ALMS1, ARL2BP, ARL6, ATF6, ATOH7, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, C20ORF197, C21orf2, C2orf71, C8orf37, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CCDC28B, CDH23, CDH3, CDHR1, CEP164, CEP250, CEP290, CERKL, CFH, CHM, CIB2, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COG4, COG6, COL11A1, COL2A1, COL9A1, CRB1, CRX, CSPP1, CYP4V2, DFNB31, DHDDS, DHX38, DRAM2, DTHD1, EFEMP1, ELOVL4, EMC1, EYS, FAM161A, FBLN5, FLVCR1, FSCN2, FZD4, GDF6, GNAT1, GNAT2, GNPTG, ADGRA3, GPR179, ADGRV1, GRK1, GRM6, GUCA1A,
GUCA1B, GUCY2D, HARS, HGSNAT, HK1, HMCN1, IDH3B, IFT140, IFT172, IFT27, IMPDH1, IMPG1, IMPG2, INPP5E, IQCB1, ITM2B, JAG1, KCNJ13, KCNV2, KIAA1549, KIF11, KLHL7, LAMA1, LCA5, P3H2, LRAT, LRIT3, LRP5, LZTFL1, MAK, MERTK, MFRP, MKKS, MKS1, MVK, MYO7A, NDP, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OFD1, OPA1, OPA3, OTX2, PANK2, PAX2, PAX6, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PGK1, PITPNM3, PLA2G5, PLK4, PNPLA6, POC1B, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB28, RAX2, RB1, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC38A8, SLC7A14, SNRNP200, SPATA7, SPP2, TEAD1, TIMP3, TMEM126A, TMEM216, TMEM67, TOPORS, TREX1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC8, TTLL5, TTPA, TUB, TUBGCP4, TUBGCP6, TULP1, UNC119, USH1C, USH1G, USH2A, VCAN, WDPCP, WDR19, ZNF408, ZNF513
AGK, BFSP1, BFSP2, CDK5RAP2, CHMP4B, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, EPHA2, EYA1, FAM126A, FOXE3, FTL, FYCO1, GALK1, GALT, GCNT2, GFER, GJA3, GJA8, HMX1, HSF4, INPP5K, LEMD2, LIM2, LSS, MAF, MIP, MSMO1, NHS, P3H2, PITX3, RDH11, SIL1, SLC16A12, SLC33A1, TDRD7, TMEM114, UNC45B, VIM, WFS1
CACNA1F, GNAT1, GNB3, GPR179, GRK1, GRM6, LRIT3, NYX, PDE6B, RDH5, RHO, RPE65, SAG, SLC24A1, TRPM1
AIPL1, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, PRPH2, RD3, RDH12, ROM1, RPE65, RPGRIP1, SPATA7, TULP1
ABCB6, ALDH1A3, BCOR, BMP4, FRAS1, FREM2, GDF3, GDF6, GRIP1, HCCS, HDAC6, HMGB3, HMX1, MAB21L2, MFRP, MITF, NAA10, OTX2, PAX6, PRSS56, PXDN, RAB3GAP1, RARB, RAX, RBP4, SHH, SIX6, SMOC1, SOX2, STRA6, TENM3, VAX1, VCX2, VSX2
AGBL1, APOA1, CHST6, COL8A2, CYP4V2, DCN, KERA, KRT12, KRT3, OVOL2, PAX6, PIKFYVE, PITX2, PRDM5, PXDN, SLC4A11, TACSTD2, TCF4, TGFBI, UBIAD1, ZEB1, ZNF469
CDH23, CIB2, CLRN1, DFNB31, ADGRV1, HARS, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A
ACO2, OPA1, OPA3, RTN4IP1, TMEM126A, YME1L1
Single Gene
Single Gene
Single Gene
Single Gene
Single Gene
Single Gene
Single Gene
Single Gene
Single Gene
Single Gene
Single Gene
Single Gene
Single Gene
Single Gene
Single Gene
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