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Mom hugging a son and daughter on bed

their Genes gave them button noses, brown hair, and VISION LOSS

Father kissing his baby on a couch

THEIR GENES GAVE THEM BROWN EYES, DIMPLES, AND VISION LOSS

THEIR GENES GAVE THEM GREEN EYES, WAVY HAIR, AND VISION LOSS

Father brushing his young daughter’s hair next to a window

THEIR GENES GAVE THEM BROWN EYES, BLACK HAIR, AND VISION LOSS

With the evolution of genetic testing comes the ability to more precisely diagnose your patients for inherited retinal diseases.

More answers from testing or retesting may uncover more possibilities for active clinical trials, emerging treatments, and even identifying underlying conditions beyond vision issues.

Discover potential testing benefits

The American Academy of Ophthalmology recommends genetic testing for most patients with a suspected inherited retinal disease.

  • Over the past
    30 years, more than

    270 GENES

    related to

    inherited retinal diseases have been identified1

  • In the past 10 years,
    approximately

    100

    New gene variants

    related to

    inherited retinal diseases

    have been discovered2,3

  • Genetic testing can
    help identify the
    genetic variant in up to

    80%

    0f people

    with an

    inherited retinal disease4

Be part of advancing science

Together, we can advance gene therapy innovation for inherited retinal diseases. The more we genetic test, the more discoveries we can make, and the more lives we can change.

View the advancements

The Overlaps 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.5,6

Venn diagram with overlapping circles labeled with gene variants. Gene variants are CSNB, RP, LCA, Alström, US, CD/CRD, CSNB, BBS, LCA, JBS, LCA, and SLS/NPHP.

©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.

Discover the complexities of overlapping genes