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Article

Progressive Photoreceptor Dysfunction and Age-Related Macular Degeneration-Like Features in rp1l1 Mutant Zebrafish

by
Nicole C. L. Noel
1,*,
Nathan J. Nadolski
1,
Jennifer C. Hocking
1,2,3,4,
Ian M. MacDonald
1,5 and
W. Ted Allison
1,6,7
1
Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada
2
Division of Anatomy, Department of Surgery, University of Alberta, Edmonton, AB T6G 2H7, Canada
3
Department of Cell Biology, University of Alberta, Edmonton, AB T6G 2H7, Canada
4
Women and Children’s Health Research Institute, University of Alberta, Edmonton, AB T6G 1C9, Canada
5
Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, AB T6G 2R7, Canada
6
Department of Biological Sciences, University of Alberta, Edmonton, AB T6G 2E9, Canada
7
Centre for Prions and Protein Folding Diseases, University of Alberta, Edmonton, AB T6G 2M8, Canada
*
Author to whom correspondence should be addressed.
Cells 2020, 9(10), 2214; https://doi.org/10.3390/cells9102214
Submission received: 5 August 2020 / Revised: 17 September 2020 / Accepted: 25 September 2020 / Published: 30 September 2020
(This article belongs to the Special Issue Molecular and Cellular Basis of Macular Degenerations)
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Abstract

Photoreceptor disease results in irreparable vision loss and blindness, which has a dramatic impact on quality of life. Pathogenic mutations in RP1L1 lead to photoreceptor degenerations such as occult macular dystrophy and retinitis pigmentosa. RP1L1 is a component of the photoreceptor axoneme, the backbone structure of the photoreceptor’s light-sensing outer segment. We generated an rp1l1 zebrafish mutant using CRISPR/Cas9 genome editing. Mutant animals had progressive photoreceptor functional defects as determined by electrophysiological assessment. Optical coherence tomography showed gaps in the photoreceptor layer, disrupted photoreceptor mosaics, and thinner retinas. Mutant retinas had disorganized photoreceptor outer segments and lipid-rich subretinal drusenoid deposits between the photoreceptors and retinal pigment epithelium. Our mutant is a novel model of RP1L1-associated photoreceptor disease and the first zebrafish model of photoreceptor degeneration with reported subretinal drusenoid deposits, a feature of age-related macular degeneration.
Keywords: rp1l1; axoneme; maculopathy; photoreceptor outer segment; occult macular dystrophy; retinitis pigmentosa; retinal dystrophy; age-related macular degeneration; subretinal drusenoid deposits; drusen rp1l1; axoneme; maculopathy; photoreceptor outer segment; occult macular dystrophy; retinitis pigmentosa; retinal dystrophy; age-related macular degeneration; subretinal drusenoid deposits; drusen

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MDPI and ACS Style

Noel, N.C.L.; Nadolski, N.J.; Hocking, J.C.; MacDonald, I.M.; Allison, W.T. Progressive Photoreceptor Dysfunction and Age-Related Macular Degeneration-Like Features in rp1l1 Mutant Zebrafish. Cells 2020, 9, 2214. https://doi.org/10.3390/cells9102214

AMA Style

Noel NCL, Nadolski NJ, Hocking JC, MacDonald IM, Allison WT. Progressive Photoreceptor Dysfunction and Age-Related Macular Degeneration-Like Features in rp1l1 Mutant Zebrafish. Cells. 2020; 9(10):2214. https://doi.org/10.3390/cells9102214

Chicago/Turabian Style

Noel, Nicole C. L., Nathan J. Nadolski, Jennifer C. Hocking, Ian M. MacDonald, and W. Ted Allison. 2020. "Progressive Photoreceptor Dysfunction and Age-Related Macular Degeneration-Like Features in rp1l1 Mutant Zebrafish" Cells 9, no. 10: 2214. https://doi.org/10.3390/cells9102214

APA Style

Noel, N. C. L., Nadolski, N. J., Hocking, J. C., MacDonald, I. M., & Allison, W. T. (2020). Progressive Photoreceptor Dysfunction and Age-Related Macular Degeneration-Like Features in rp1l1 Mutant Zebrafish. Cells, 9(10), 2214. https://doi.org/10.3390/cells9102214

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