Let your patients know they are not alone. Empower them with the communities below.
Your patients can find support from these groups, where they can share experiences and gain insights to a healthier life. Detailed resources are also available to your practice to help explain an inherited retinal disease diagnosis.
Clicking on any link below will take you to a third-party website.
Education, Support, & Community
Information About Eye Specialists and Genetic Counselors
Compelling case studies
Click on the case studies below to help identify appropriate patients in your practice who may benefit from genetic testing.
Revealing underlying conditions
Genetic retesting helped establish a diagnosis of a syndromic condition associated with nonocular complications.
Read case studyOverlapping gene variants
Genetic testing helped confirm a more precise diagnosis in a patient who presented with nonspecific signs and symptoms.
Read case studyDe novo pathogenic variant
Genetic testing helped this patient establish the correct inherited retinal disease diagnosis after receiving 3 different medical opinions.
Read case studyRetesting after previous negative/inconclusive result
Genetic retesting after 7 years helped a 58-year-old patient reveal the pathogenic variant associated with his inherited retinal disease.
Read case studyRetesting after 1+ years
After 2 different clinical diagnoses, a genetic test revealed the mitochondrial gene variant that may be responsible for a patient’s symptoms.
Read case studyEducational patient videos
Use the educational videos below to help you discuss inherited retinal diseases, how they happen, how they’re passed down in families, and how a genetic test can help uncover more answers to help your patients move forward in their future.
How do inherited retinal diseases happen?
Genetic counselor Elena breaks down what genes are and how gene variants can impact vision.
© Janssen Pharmaceuticals, Inc. 2021 10/21 cp-259572v2
How are retinal diseases inherited?
Narrated by genetic counselor Elena, this animated video brings to life autosomal dominant, autosomal recessive, and X-linked inheritances.
© Janssen Pharmaceuticals, Inc. 2021 10/21 cp-259571v1
Seeking a clinical trial
Over 30 clinical trials are either completed or underway for different types of inherited retinal diseases, such as retinitis pigmentosa, X-linked retinitis pigmentosa, Leber congenital amaurosis, achromatopsia, Usher syndrome, and Stargardt disease.1 However, the growth of clinical trials for inherited retinal diseases has increased swiftly and is expected to advance as therapies emerge and qualified patients are identified.2
Explore the latest trials in progress from
clinicaltrials.gov