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  • An Asian woman holds her child to her cheek and kisses her
    An Asian woman holds her child to her cheek and kisses herAn Asian woman holds her child to her cheek and kisses her

    Boldly Taking
    on Inherited
    Retinal DiseasesRetinal
    Diseases

Item 1 of 1

~1 in 2000 people

have inherited retinal diseases based on global estimates.1,2*

>270 genes

related to inherited retinal diseases have been identified to date3

Inherited retinal diseases are a group of rare eye disorders that can lead to serious vision impairment or loss. Note that inherited retinal diseases are sometimes also referred to as inherited retinal dystrophies or degenerations. These conditions can occur when one or more genes are not working properly.1,4,5

Millions of people worldwide are still without available treatment options.6 Janssen is committed to investing in gene therapy solutions to help this community.

*Prevalence may vary by region, locality, or subpopulation.7,8

Venn diagram with overlapping circles labeled with inherited retinal diseases: CSNB, RP, LCA, Alström, US, CD/CRD, CSNB, BBS, LCA, JBS, LCA, and SLS/NPHP

Explore the overlapping challenges of inherited retinal diseases

The genetic heterogeneity of inherited retinal diseases can make it challenging to reach a specific diagnosis. A single gene may even be associated with multiple phenotypes.9,10

Venn diagram with overlapping circles labeled with inherited retinal diseases: CSNB, RP, LCA, Alström, US, CD/CRD, CSNB, BBS, LCA, JBS, LCA, and SLS/NPHP

†Mapped genetic loci without an identified gene, as of 2019.11

© 2021 American Academy of Ophthalmology. Reproduced with permission.

BBS=Bardet-Biedl syndrome; CD=cone dystrophy; CSNB=congenital stationary night blindness; CRD=cone-rod dystrophy; JBS=Joubert syndrome; LCA=Leber congenital amaurosis; NPHP=nephronophthisis; RP=retinitis pigmentosa; SLS=Sjögren-Larsson syndrome; USH=Usher syndrome.

Genetic testing has become the standard for reaching a more precise diagnosis. A more accurate diagnosis helps inform the best course of action for future medical management.

Uncover more about inherited retinal diseases
“

Janssen is committed to innovating new therapies to save sight and improve vision.

-James F. List, MD, PhD – Cardiovascular & Metabolism Retina Global – Therapeutic Area Head

”

See our investments in gene therapy and treatments for inherited retinal diseases

View our research
A female scientist with goggles works in a lab with a male worker to her right side

Experience the impact of inherited retinal diseases

Introducing the Vision Simulator, an interactive virtual experience that explores retinal eye diseases and their effects—seen from everyday life to the cellular level.

Explore the Vision Simulator
Hide referencescollapse

  1. Cremers F, Boon C, 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.

  2. Galvin O, Chi G, Brady L, et al. The impact of inherited retinal diseases in the Republic of Ireland (ROI) and the United Kingdom (UK) from a cost-of-illness perspective. Clin Ophthalmol. 2020;14:707-719.

  3. Branham K, Schlegel D, Fahim AT, Jayasundera KT. Genetic testing for inherited retinal degenerations: Triumphs and tribulations. Am J Med Genet C Semin Med Genet. 2020;184(3):571-577.

  4. Willis TA, Potrata B, Ahmed M. Understanding of and attitudes to genetic testing for inherited retinal disease: a patient perspective. Br J Ophthalmol. 2013;97(9):1148-1154.

  5. Ziccardi L, Cordeddu V, Gaddini L, et al. Gene therapy in retinal dystrophies. Int J Mol Sci. 2019;20(22):5722-5747.

  6. Gong J, Cheung S, Fasso-Opie A, et al. The impact of inherited retinal diseases in the United States of America (US) and Canada from a cost-of-illness perspective. Clin Ophthalmol. 2021;15:2855-2866.

  7. Xu K, Chen D, Chang H, et al. Genotype profile of global EYS-associated inherited retinal dystrophy and clinical findings in a large chinese cohort. Front Cell Dev Biol. 2021;6. doi:10.3389/fcell.2021.634220

  8. Grigg J, Jamieson R, Chen F, et al; for The Royal Australian and New Zealand College of Ophthalmologists. Guidelines for the Assessment and Management of Patients with Inherited Retinal Degenerations (IRD). Accessed July 26, 2021. https://ranzco.edu/wp-content/uploads/2020/05/RANZCO-Guidelines-for-the-assessment-and-management-of-patients-with-inherited-retinal-diseases-IRD.pdf

  9. Lee K, Garg S. Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies. Genet Med. 2015;17(4):245-252.

  10. Duncan JL, Bernstein PS, Birch DG, et al. Recommendations on clinical assessment of patients with inherited retinal degenerations. American Academy of Ophthalmology. Updated June 2016. Accessed July 26, 2021. https://www.aao.org/clinical-statement/recommendations-on-clinical-assessment-of-patients

  11. Henderson RH. Inherited retinal dystrophies. Paediatr Child Care Health. 2019;30(1):19-27.