Inherited Retinal Disease (IRD) Genetic Testing for HCPs

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.

Clinical Statement: Recommendations on Clinical Assessment of Patients with Inherited Retinal Degenerations. 2016. Accessed September 2021.

Over the past
30 years, more than

270 GENES

inherited retinal diseases have been identified¹

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.

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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.

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=Senior-Løken syndrome; USH=Usher syndrome.

Discover the complexities of overlapping genes

80%

270 GENES

100

80%

270 GENES

100

80%

Be part of advancing science

The Overlaps of Inherited Retinal Diseases