

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


THEIR GENES GAVE THEM BUTTON NOSES, BROWN HAIR, AND VISION LOSS


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


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


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


THEIR GENES GAVE THEM BUTTON NOSES, BROWN HAIR, AND VISION LOSS


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


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


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.
The AMERICAN ACADEMY OF OPHTHALMOLOGY recommends genetic testing for most patients with a suspected inherited retinal disease.
Genetic testing can
help identify the
genetic variant in up to
80%
Of people
with an
inherited retinal disease4
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%
Of people
with an
inherited retinal disease4
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%
Of 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.
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

©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=Senior-Løken syndrome; USH=Usher syndrome.
Compelling case studies
Explore a range of case studies that can help you identify patients who may benefit from genetic testing.
Genetic testing may uncover new answers
Discover the importance of testing and retesting and how it can help you better support your patients with their eye care.