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Review
. 2025 Jun;36(2):500-510.
doi: 10.1007/s00335-024-10091-y. Epub 2024 Dec 30.

Canine models of inherited retinal diseases: from neglect to well-recognized translational value

Valérie L Dufour  1 , Gustavo D Aguirre  2
Affiliations
Review

Canine models of inherited retinal diseases: from neglect to well-recognized translational value

Valérie L Dufour et al. Mamm Genome. 2025 Jun.

Erratum in

Abstract

Large animal models of inherited retinal diseases, particularly dogs, have been extensively used over the past decades to study disease natural history and evaluate therapeutic interventions. Our group of investigators at the University of Pennsylvania, School of Veterinary Medicine, has played a pivotal role in characterizing several of these animal models, documenting the natural history of their diseases, developing gene therapies, and conducting proof-of-concept studies. Additionally, we have assessed the potential toxicity of these therapies for human clinical trials, contributing to the regulatory approval of voretigene neparvovec-rzyl (Luxturna®) by the US Food and Drug Administration (FDA) and the European Medicines Agency (EMA) for the treatment of patients with confirmed biallelic mutation-associated retinal dystrophy. In this review, we aim to summarize the clinical features of a subset of these diseases and reflect on the challenges encountered in integrating canine models into the translational pipeline.

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Conflict of interest statement

Declarations. Ethical approval: All studies that involved the use of animals were conducted in full compliance with the University of Pennsylvania Institutional Animal Care and Use Committee (IACUC) approval, adhered to the Association for Research in Vision and Ophthalmology (ARVO) Resolution for the Use of Animals in Ophthalmic and Vision Research, and followed the recommendations in the Guide for the Care and Use of Laboratory Animals of the National Institutes of Health of the United States of America. Competing interests: The authors declare no competing interests.

References

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