PUBLICATION
Progressive Photoreceptor Dysfunction and Age-Related Macular Degeneration-Like Features in rp1l1 Mutant Zebrafish
- Authors
- Noel, N.C.L., Nadolski, N.J., Hocking, J.C., MacDonald, I.M., Allison, W.T.
- ID
- ZDB-PUB-201004-1
- Date
- 2020
- Source
- Cells 9(10): (Journal)
- Registered Authors
- Allison, Ted, Hocking, Jennifer
- Keywords
- age-related macular degeneration, axoneme, drusen, maculopathy, occult macular dystrophy, photoreceptor outer segment, retinal dystrophy, retinitis pigmentosa, rp1l1, subretinal drusenoid deposits
- MeSH Terms
-
- Animals
- Macular Degeneration/genetics*
- Male
- Photoreceptor Cells, Vertebrate
- Zebrafish
- PubMed
- 33007938 Full text @ Cells
Citation
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):.
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.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping