Inherited Retinal Disease Resource Library
Explore examples of research, developmental milestones, and investigational treatment approaches targeting inherited retinal diseases (IRDs).
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Nonsyndromic Retinitis Pigmentosa Overview
Retinitis Pigmentosa/Leber Congenital Amaurosis (RPE65)Review the clinical characteristics, causes, evaluation strategies, and genetic risk assessment approaches for nonsyndromic retinitis pigmentosa.
Guidelines on Clinical Assessment of Patients with Inherited Retinal Degenerations – 2022
Inherited Retinal DiseasesReview recommendations for evaluating and assessing patients with inherited retinal diseases.
Recommendations for Genetic Testing of Inherited Eye Diseases – 2014
Inherited Retinal DiseasesGenetic testing can have a positive impact on individuals and families affected with inherited eye disease. Learn more about the details of genetic testing.
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RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
Retinitis Pigmentosa/Leber Congenital Amaurosis (RPE65)Gain insight into early-onset retinal dystrophy diagnosis, testing, management, and genetic counseling options.
Stargardt Macular Degeneration
Stargardt DiseaseGet an overview of the signs and symptoms of Stargardt macular degeneration, a genetic eye disorder that causes progressive vision loss.
AAV Gene Therapy Research Animation
Gene TherapyAdeno-associated viral (AAV) vectors are designed to encapsulate genetic material for the potential treatment of genetic diseases. Explore the science behind AAV gene therapy research.
What Causes Genetic Disease?
Gene TherapyProteins carry out a variety of cellular and physiological functions in the body. See how changes in a person’s DNA can affect proteins and lead to genetic disease.
Gene Therapy Strategies
Gene TherapyLearn how genetic therapy approaches can potentially correct genetic mutations to provide functional protein.
Biological Features of a Recombinant AAV
Gene TherapyAAVs are commonly used as vectors in gene therapy. See how recombinant AAV vectors are designed and how they function in the body.
Targeted Cell AAV Delivery
Gene TherapyWatch how recombinant AAV vectors delivered into the body locate specific surface receptors of target cells.
Delivery into Target Cells
Gene TherapyDNA is delivered to the nucleus of the target cell to allow for gene expression of the relevant protein. Watch the process in action.
Gene Therapy and the Immune Response
Gene TherapyAdministering AAV vectors can activate different branches of the immune system. Learn about this process and research to develop immunosuppressive techniques.
Supplemental Resources
Explore additional inherited retinal disease resources to supplement conversations with your patients.
Annual Ophthalmology Events
At Spark Therapeutics, we’re striving to address unmet needs in rare genetic diseases. Here are some events relevant to our research.
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