ArticleInvestigative ophthalmology & visual science2009
Age-dependent disease expression determines remodeling of the retinal mosaic in carriers of RPGR exon ORF15 mutations.
Article in Investigative ophthalmology & visual science, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 35 citations in OpenAlex.
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- Retinal prolactin isoform PRLΔE1 sustains rod disease in inherited retinal degenerations.Cell death & disease · 2024Article
- Retinal degeneration inFrontiers in cell and developmental biology · 2023Article
- Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel IntronicJournal of personalized medicine · 2022Article
- Coming of Age for the Photoreceptor Synapse.Investigative ophthalmology & visual science · 2021Article
- Candidate Genetic Modifiers for RPGR Retinal Degeneration.Investigative ophthalmology & visual science · 2020Article
- Dose Range Finding Studies with TwoHuman gene therapy · 2020Article
- Review
- Critical Decrease in the Level of Axon Guidance Receptor ROBO1 in Rod Synaptic Terminals Is Followed by Axon Retraction.Investigative ophthalmology & visual science · 2020Article
- CELLULAR IMAGING OF THE TAPETAL-LIKE REFLEX IN CARRIERS OF RPGR-ASSOCIATED RETINOPATHY.Retina (Philadelphia, Pa.) · 2019Article
- Concepts and Strategies in Retinal Gene Therapy.Investigative ophthalmology & visual science · 2017Article
- Optimization of Retinal Gene Therapy for X-Linked Retinitis Pigmentosa Due to RPGR Mutations.Molecular therapy : the journal of the American Society of Gene Therapy · 2017Article
- Rod Outer Segment Development Influences AAV-Mediated Photoreceptor Transduction After Subretinal Injection.Human gene therapy · 2017Article
- Genetic rescue models refute nonautonomous rod cell death in retinitis pigmentosa.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- Strong upregulation of inflammatory genes accompanies photoreceptor demise in canine models of retinal degeneration.PloS one · 2017Article
- Molecular studies of phenotype variation in canine RPGR-XLPRA1.Molecular vision · 2016Article
- The Role of X-Chromosome Inactivation in Retinal Development and Disease.Advances in experimental medicine and biology · 2016Article
- Drusen and photoreceptor abnormalities in African-Americans with intermediate non-neovascular age-related macular degeneration.Current eye research · 2015Article
- Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR.Cold Spring Harbor perspectives in medicine · 2014Review
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
purposeTo characterize the retinal histopathology in carriers of X-linked progressive retinal atrophy (XLPRA1 and XLPRA2), two canine models of X-linked retinitis pigmentosa caused, respectively, by a stop and a frameshift mutation in RPGRORF15.
methodsRetinas of XLPRA2 and XLPRA1 carriers of different ages were processed for morphologic evaluation, TUNEL assay, and immunohistochemistry. Cell-specific markers were used to examine retinal remodeling events.
resultsA mosaic pattern composed of patches of diseased and normal retina was first detected in XLPRA2 carriers at 4.9 weeks of age. A peak of photoreceptor cell death led to focal rod loss; however, in these patches an increased density of cones was found to persist over time. Patches of disease gradually disappeared so that by 39 weeks of age the overall retinal morphology, albeit thinner, had improved lamination. In older XLPRA2 carriers (>or=8.8 years), extended regions of severe degeneration occurred in the peripheral/mid-peripheral retina. In XLPRA1 carriers, opsin mislocalization and rare events of rod death were detected by TUNEL assay at 20 weeks of age; however, only patchy degeneration was seen by 1.4 years and was still apparent at 7.8 years.
conclusionsThe time of onset and the progression of the disease differed between the two models. In the early-onset form (XLPRA2) the morphologic appearance of the retinal mosaic changed as a function of age, suggesting that structural plasticity persists in the early postnatal canine retina as mutant photoreceptors die. In the late-onset form (XLPRA1), patches of disease persisted until later ages.
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