Progressive Photoreceptor Dysfunction and Age-Related Macular Degeneration-Like Features in rp1l1 Mutant Zebrafish
| Autor: | Jennifer C. Hocking, Ian M. MacDonald, Nicole C. L. Noel, Nathan J. Nadolski, W. Ted Allison |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Axoneme genetic structures Mutant subretinal drusenoid deposits Drusen maculopathy 03 medical and health sciences 0302 clinical medicine retinitis pigmentosa Retinitis pigmentosa medicine retinal dystrophy age-related macular degeneration Zebrafish axoneme lcsh:QH301-705.5 Retinal pigment epithelium biology photoreceptor outer segment drusen rp1l1 General Medicine Macular degeneration biology.organism_classification medicine.disease Photoreceptor outer segment eye diseases 3. Good health Cell biology 030104 developmental biology medicine.anatomical_structure lcsh:Biology (General) 030221 ophthalmology & optometry occult macular dystrophy sense organs |
| Zdroj: | Cells, Vol 9, Iss 2214, p 2214 (2020) Cells Volume 9 Issue 10 |
| ISSN: | 2073-4409 |
| Popis: | 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&rsquo 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. |
| Databáze: | OpenAIRE |
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