Inherited Retinal Disease (IRD)

Disease/Condition(s): cone-rod dystrophies (CRD), Inherited Retinal Disease (IRD), Leber congenital amaurosis (LCA), Retinitis pigmentosa (RP), Stargardt disease (STGD)
What is Inherited Retinal Disease (IRD)?

Inherited retinal diseases (IRDs) are a genetically and clinically heterogeneous group of disorders characterized by loss of photoreceptor function and a major cause of severe vision loss or blindness.1

IRDs can present in various forms:

  • Retinitis pigmentosa (RP) is the most common presentation. RP typically presents with night blindness followed by constriction of peripheral visual fields, which leads to tunnel vision and eventually loss of central vision.2
  • Patients with cone-rod dystrophies (CRD) experience decreased visual acuity, photophobia, nystagmus and progressive loss of color perception. Onset for CRD is typically in early childhood or adolescence.3,4
  • Leber congenital amaurosis (LCA) is a severe retinal disease with early onset and is characterized by early vision loss in infancy, absent or sluggish pupillary response, and severely abnormal or absent ERG response.5,6
  • Extra ocular involvement that may require additional medical management can also present in individuals with an underlying genetic syndrome with features that include but are not limited to renal disease, developmental delay or intellectual disability, hearing loss, ataxia, laterality defects and abnormalities of the skeletal, cardiac and genitourinary systems.


The incidence of IRDs is estimated to be 1:2000 and the leading cause of vision loss between the ages of 15 and 45.1

Inherited Retinal Disease (IRD) Sponsored Testing Program Overview:

Inherited Retinal Disease

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What is the role of testing for Inherited Retinal Disease (IRD)?

The Invitae Inherited Retinal Disorders Panel analyzes genes that are associated with inherited retinal disorders including but not limited to retinitis pigmentosa (RP), cone-rod dystrophy, and Leber congenital amaurosis. The genetic heterogeneity associated with these conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. Broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication. Some genes in this test may also be associated with additional unrelated disorders, which are not included in the list of disorders tested. Genetic testing of these genes may help confirm a clinical diagnosis and provide information for recurrence-risk estimation and genetic counseling.

This panel includes the RPGR gene, including exon 15 (ORF15), which is preferentially expressed in the retina, and which is associated with X-linked RP.

What is the Program?

Sponsored, no-charge genetic testing for individuals suspected of or at risk of having an inherited retinal disease (IRD) either from clinical symptoms or family history.

Program Eligibility

This program is available to patients in the USA and Canada suspected of having an inherited retinal disease based on one or more of the following:

  • Symptomatic individual with clinical diagnosis or suspicion of one of the following:

    • Retinitis pigmentosa (RP)
    • Cone Rod Dystrophy (CRD)
    • Leber congenital amaurosis (LCA)
    • Stargardt disease (STGD)
    • Other inherited retinal disease

  • Or symptomatic individual with suspicion of an inherited retinal disease

  • Or asymptomatic individual with a family history of known disease-causing variant in one of the genes included on the Invitae Inherited Retinal Disorders Panel

  • Or asymptomatic individual with a family history of an inherited retinal disease with no previous genetic testing

Note: This program is not appropriate for patients with age-related macular degeneration.

Testing

How to participate

Choose between the following testing options:

Invitae

Invitae Inherited Retinal Disorders Panel

Genes Evaluated: ABCA4, ABCC6, ABHD12, ACBD5, ACO2, ADAM9, ADAMTS18, ADAMTSL4, ADGRA3, ADGRV1, ADIPOR1, AGBL5, AHI1, AHR, AIPL1, ALMS1, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARMC9, ARSG, ASRGL1, ATF6, ATOH7, B9D1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C10ORF11, C12ORF65, C1QTNF5, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CCT2, CDH23, CDH3, CDHR1, CEP164, CEP19, CEP250, CEP290, CEP41, CEP78, CEP83, CERKL, CFAP410, CHM, CIB2, CISD2, CLCC1, CLN2 (TPP1), CLN3, CLN5, CLN6, CLN8, CLRN1, CLUAP1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, CPLANE1, CRB1, CRX, CSPP1, CTNNA1, CTSD, CWC27, CYP4V2, DHDDS, DHX32, DHX38, DNAJC17, DRAM2, DSCAML1, DTHD1, EFEMP1, ELOVL4, EMC1, ERCC6, EXOSC2, EYS, FAM161A, FBLN5, FLVCR1, FRMD7, FSCN2, FZD4, GDF6, GNAT1, GNAT2, GNB3, GNPTG, GNS, GPR143, GPR179, GPR45, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS, HGSNAT, HK1, HMCN1, HMX1, IDH3A, IDH3B, IFT140, IFT172, IFT27, IFT43, IFT74, IFT80, IFT81, IFT88, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, ITM2B, JAG1, KCNJ13, KCNV2, KIAA0586, KIAA1549, KIF11, KIF7, KIZ, KLHL7, LCA5, LRAT, LRIT3, LRP2, LRP5, LYST, LZTFL1, MAK, MAPKAPK3, MERTK, MFN2, MFRP, MFSD8, MIR204, MKKS, MKS1, MPDZ, MTPAP, MTTP, MYO7A, NAGLU, NBAS, NDP, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OCA2, OFD1, OPA1, OPA3, OPN1SW, OR2W3, OTX2, P3H2, PAX2, PAX6, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PITPNM3, PLA2G5, PLK4, PNPLA6, POC1B, POC5, POMGNT1, PPT1, PRCD, PRDM13, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB28, RAX2, RBP1, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGR (ORF15), RPGRIP1, RPGRIP1L, RS1, RTN4IP1, SAG, SAMD11, SCLT1, SDCCAG8, SEMA4A, SGSH, SIX6, SLC24A1, SLC24A5, SLC45A2, SLC7A14, SNRNP200, SPATA7, SPP2, TCTN1, TCTN2, TCTN3, TEAD1, TIMM8A, TIMP3, TMED7, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TRAF3IP1, TREX1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TUB, TUBGCP4, TUBGCP6, TULP1, TYR, TYRP1, UNC119, USH1C, USH1G, USH2A, VCAN, VPS13B, WDPCP, WDR19, WDR34, WFS1, WHRN, ZNF408, ZNF423, ZNF513

How To Order

Collect your patient’s specimen using an Invitae collection kit and return it. Use the label provided to ship most samples at no additional charge from the US and Canada.

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More Information About This Program

  • Patients that meet the eligibility criteria may receive one test at no cost.
  • No patients, providers, and/or third-party payers (including commercial health plans and government health care programs) will be billed for the testing covered under the program.
  • The ordering physician will not receive any fees or other compensation in connection with the Sponsored Testing Program, such as for specimen collection, handling, or data reporting.
  • Patients meeting the above eligibility criteria, as well as their treating health care providers, are not required to order, purchase, prescribe, and/or obtain any other product or service from sponsor, the labs or any of their affiliates.
  • The performing labs reserve the right to rescind, revoke, or amend the program for any reason without notice.
  • Program is not valid where prohibited by law.
  • No identifiable patient data will be shared with sponsor as part of this program.

About Spark Therapeutics

Spark Therapeutics Logo

At Spark Therapeutics, a fully integrated, commercial company committed to discovering, developing and delivering gene therapies, we challenge the inevitability of genetic diseases, including blindness, hemophilia, lysosomal storage disorders and neurodegenerative diseases. At Spark, a member of the Roche Group, we see the path to a world where no life is limited by genetic disease. For more information, visit www.sparktx.com, and follow us on Twitter and LinkedIn.

About LUXTURNA®

LUXTURNA® (voretigene neparvovec-rzyl) is a groundbreaking gene therapy developed by Spark Therapeutics for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy, a rare genetic condition that leads to vision loss and can cause complete blindness. LUXTURNA works by delivering a normal copy of the RPE65 gene directly to retinal cells, enabling them to produce the essential protein needed for vision. Administered via subretinal injection, this one-time therapy has shown significant improvements in functional vision, as evidenced by patients’ enhanced ability to navigate an obstacle course at varying light levels. Approved by the FDA in December 2017, LUXTURNA represents a major advancement in the field of gene therapy, offering hope for patients with inherited retinal diseases​.

References

1. Cremers FPM, Boon CJF, Bujakowska K, Zeitz C. Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype-Phenotype Correlations, and Inheritance Models. Genes (Basel). 2018;9(4):215. Published 2018 Apr 16. doi:10.3390/genes9040215.
2. Daiger SP, Bowne SJ, Sullivan LS. Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol. 2007;125(2):151-158. doi:10.1001/archopht.125.2.151.
3. Moore AT. Cone and cone-rod dystrophies. J Med Genet. 1992;29(5):289-290. doi:10.1136/jmg.29.5.289.
4. Hamel CP. Cone rod dystrophies. Orphanet J Rare Dis. 2007;2:7. Published 2007 Feb 1. doi:10.1186/1750-1172-2-7.
5. Chacon-Camacho OF, Zenteno JC. Review and update on the molecular basis of Leber congenital amaurosis. World J Clin Cases. 2015;3(2):112-124. doi:10.12998/wjcc.v3.i2.112.
6. Fazzi E, Signorini SG, Scelsa B, Bova SM, Lanzi G. Leber’s congenital amaurosis: an update. Eur J Paediatr Neurol. 2003;7(1):13-22. doi:10.1016/s1090-3798(02)00135-6.

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