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Perkins. J Transl Genet Genom 2022;6:95-110 Journal of Translational
DOI: 10.20517/jtgg.2021.47
Genetics and Genomics

Review Open Access

Zebrafish models of inherited retinal dystrophies

Brian D. Perkins 1,2,3
1
Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic, OH 44195, USA.
2
Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, OH 44195, USA.
3
Department of Molecular Medicine, Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland,
OH 44195, USA.
Correspondence to: Dr. Brian D. Perkins, Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic, 9500 Euclid
Ave, Cleveland, OH 44195, USA. E-mail: Perkinb2@ccf.org
How to cite this article: Perkins BD. Zebrafish models of inherited retinal dystrophies. J Transl Genet Genom 2022;6:95-110.
https://dx.doi.org/10.20517/jtgg.2021.47
Received: 23 Sep 2021 First Decision: 27 Sep 2021 Revised: 30 Oct 2021 Accepted: 22 Nov 2021 Published: 8 Feb 2022

Academic Editor: Bernhard HF Weber Copy Editor: Xi-Jun Chen Production Editor: Xi-Jun Chen

Abstract
Inherited retinal degenerations (IRDs) cause permanent vision impairment or vision loss due to the death of rod
and cone photoreceptors. Animal models of IRDs have been instrumental in providing knowledge of the
pathological mechanisms that cause photoreceptor death and in developing successful approaches that could slow
or prevent vision loss. Zebrafish models of IRDs represent an ideal model system to study IRDs in a cone-rich retina
and to test strategies that exploit the natural ability to regenerate damaged neurons. This review highlights those
zebrafish mutants and transgenic lines that exhibit adult-onset retinal degeneration and serve as models of retinitis
pigmentosa, cone-rod dystrophy, and ciliopathies.

Keywords: Retina, photoreceptors, zebrafish, regeneration, degeneration, cilia

INTRODUCTION
Inherited retinal degenerations (IRDs) comprise a large collection of diseases that progressively compromise
vision and can lead to blindness due to the degeneration of rod and cone photoreceptors. IRDs exhibit
genetic and clinical heterogeneity, with 280 unique disease genes identified to date . The inheritance
[1]
patterns of IRDs include autosomal dominant, autosomal recessive, and X-linked, although mutations in
mitochondrial DNA have been shown to cause retinopathy. Diseases such as retinitis pigmentosa (RP),

© The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, sharing,
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