Their genes gave them button noses, brown hair and vision loss
With the evolution of genetic testing comes the ability to more precisely diagnose your patients for inherited retinal diseases.[1] Genetic testing can also help identify at-risk family members, inform individual and family planning and improve the patient experience by reducing the burden of unnecessary subsequent testing or treatment..[1][2]
Their genes gave them brown eyes, dimples and vision loss
With the evolution of genetic testing comes the ability to more precisely diagnose your patients for inherited retinal diseases.[1] More answers from testing or retesting may uncover more possibilities for active clinical trials, emerging treatments, and even identifying underlying conditions beyond vision issues.[1][2]
Their genes gave them green eyes, wavy hair and vision loss
With the evolution of genetic testing comes the ability to more precisely diagnose your patients for inherited retinal diseases.[1]
More answers from testing or retesting may uncover more possibilities for active clinical trials, emerging treatments, and even identifying underlying conditions beyond vision issues.[1][2]
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.[1]
More answers from testing or retesting may uncover more possibilities for active clinical trials, emerging treatments, and even identifying underlying conditions beyond vision issues.[1][2]
The European Reference Network for Rare Eye Diseases (ERN–EYE) promotes access to genetic testing and also emphasises the clinical need and relevance of genetic testing in rare eye diseases[3]
Over the past
30 years, more than
300 genes
related to
inherited retinal diseases have been identified[4]
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Inherited retinal diseases (IRDs)
have a prevalence of approximately
1 in 1,380 individuals, with
5.5 million people
expected to be
affected worldwide*[5]
*Prevalence may vary by region, locality or subpopulation
Genetic testing can help
identify the genetic basis
of the disease in
56–76%
of patients
with different forms of IRDs.[6]
Advancing science
Today, numerous clinical trials are either completed or underway for the treatment of different types of inherited retinal diseases. These clinical trials explore the potential of gene therapy and several other technologies.[7][8][9]
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.[6][10]
Adapted from AAO 2021[11]
AAO=American Academy of Ophthalmology; BBS=Bardet-Biedl syndrome; CD=cone dystrophy; CRD=cone-rod dystrophy; CSNB=congenital stationary night blindness; JBS=Joubert syndrome; LCA=Leber congenital amaurosis; NPHP=nephronophthisis; RP=retinitis pigmentosa; SLS=Sjögren-Larsson syndrome; USH=Usher syndrome.
Explore a range of case studies that can help you identify patients who may benefit from genetic testing.
Discover the importance of testing and retesting and how it can help you better support your patients with their eye care.
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