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 Preview

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 Preview

Guidelines on Clinical Assessment of Patients with Inherited Retinal Degenerations – 2022

Inherited Retinal Diseases

Review recommendations for evaluating and assessing patients with inherited retinal diseases.

Recommendations for Genetic Testing of Inherited Eye Diseases – 2014 Preview

Recommendations for Genetic Testing of Inherited Eye Diseases – 2014

Inherited Retinal Diseases

Genetic 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 Preview

Stargardt Macular Degeneration

Stargardt Disease

Get 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 Preview

AAV Gene Therapy Research Animation

Gene Therapy

Adeno-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? Preview

What Causes Genetic Disease?

Gene Therapy

Proteins 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 Preview

Gene Therapy Strategies

Gene Therapy

Learn how genetic therapy approaches can potentially correct genetic mutations to provide functional protein.

Biological Features of a Recombinant AAV Preview

Biological Features of a Recombinant AAV

Gene Therapy

AAVs 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 Preview

Targeted Cell AAV Delivery

Gene Therapy

Watch how recombinant AAV vectors delivered into the body locate specific surface receptors of target cells.

Delivery into Target Cells Preview

Delivery into Target Cells

Gene Therapy

DNA 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 Preview

Gene Therapy and the Immune Response

Gene Therapy

Administering AAV vectors can activate different branches of the immune system. Learn about this process and research to develop immunosuppressive techniques.


Supplemental Resources

Here are some additional resources you can reference to supplement conversations with your patients.


Search PubMed for Spark
Therapeutics relevant publications
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