ArticleInvestigative ophthalmology & visual science2010
Retinal pigment epithelium defects accelerate photoreceptor degeneration in cell type-specific knockout mouse models of choroideremia.
Article in Investigative ophthalmology & visual science, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
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Who cites it
48 citing papers in PubMed, 86 citations in OpenAlex.
- Characterizing the Natural History of Visual Function in Choroideremia Using Microperimetry and Multimodal Retinal Imaging.Investigative ophthalmology & visual science · 2017Trial
- A Qualitative and Quantitative Assessment of Fundus Autofluorescence Patterns in Patients With Choroideremia.Investigative ophthalmology & visual science · 2016Trial
- Correlation of Optical Coherence Tomography and Autofluorescence in the Outer Retina and Choroid of Patients With Choroideremia.Investigative ophthalmology & visual science · 2016Trial
- High-resolution adaptive optics retinal imaging of cellular structure in choroideremia.Investigative ophthalmology & visual science · 2014Trial
- Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.Lancet (London, England) · 2014Trial
- Toward Organelle Motility as a Functional Biomarker of Retinal Pigment Epithelium Health.Translational vision science & technology · 2026Article
- Deficiency disrupts photoreceptor viability and synaptic integrity in a choroideremia mouse model.Cell death & disease · 2025Article
- Loss of REP-1 in retinal pigment epithelial cells leads to impaired phagosome processing and altered lysosomal pathway function.Molecular biology of the cell · 2025Article
- Gene therapy for choroideremia: progress, potential and pitfalls.Expert opinion on biological therapy · 2025Review
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- Structural, blood flow and functional changes in the macular area and the expression of aqueous humor factors in myopia.Frontiers in medicine · 2024Article
- Oxidative and Endoplasmic Reticulum Stress Represent Novel Therapeutic Targets for Choroideremia.Antioxidants (Basel, Switzerland) · 2023Article
- Cone Photoreceptor Morphology in Choroideremia Assessed Using Non-Confocal Split-Detection Adaptive Optics Scanning Light Ophthalmoscopy.Investigative ophthalmology & visual science · 2023Article
- Clinical Applications of Optical Coherence Tomography Angiography in Inherited Retinal Diseases: An Up-to-Date Review of the Literature.Journal of clinical medicine · 2023Review
- Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics.Communications biology · 2022Article
- Short-term Assessment of Subfoveal Injection of Adeno-Associated Virus-Mediated hCHM Gene Augmentation in Choroideremia Using Adaptive Optics Ophthalmoscopy.JAMA ophthalmology · 2022Article
- Cellular and molecular alterations in neurons and glial cells in inherited retinal degeneration.Frontiers in neuroanatomy · 2022Review
- Microtubule Motor Transport of Organelles in a Specialized Epithelium: The RPE.Frontiers in cell and developmental biology · 2022Review
- Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date.Molecular diagnosis & therapy · 2021Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
Abstract
purposeChoroideremia (CHM) is a progressive X-linked degeneration of three ocular layers (photoreceptors, retinal pigment epithelium, and choroid), with a complex and still largely unclear pathogenesis. To investigate the pathophysiology of CHM, the authors engineered mice with a cell type-specific Chm/Rep1 knockout (KO).
methodsA mouse line carrying a conditional allele Chm(Flox) was crossed with the transgenic line IRBP-Cre to achieve Chm KO, specifically in the photoreceptor layer, and Tyr-Cre to produce Chm KO, specifically in the retinal pigment epithelial and other pigmented cells. Chm(Flox), Tyr-Cre+ and Chm(Flox), IRBP-Cre+ mice were mated to produce mice with Chm KO in both layers. All mouse lines were studied by histology, electron microscopy, electroretinography (ERG), scanning laser ophthalmoscopy (SLO), and biochemical
methods
resultsIn Chm(Flox), IRBP-Cre+ mice the authors observed the progressive degeneration of photoreceptors in the presence of normal retinal pigment epithelium (RPE). Chm(Flox), Tyr-Cre+ mice exhibited coat color dilution and pigment abnormalities of the RPE in the presence of an intact outer nuclear layer. In 6- to 8-month-old Chm(Flox), Tyr-Cre+, IRBP-Cre+ mice, the degeneration of photoreceptors was accelerated compared with Chm(Flox), IRBP-Cre+ mice but became leveled with age, such that it was comparable at 12 to 14 months. Detailed ERG and SLO analysis supported the histopathologic findings.
conclusionsDefects in photoreceptors and RPE can arise because of intrinsic defects caused cell autonomously by the Chm KO. However, when both photoreceptors and RPE are diseased, the dynamics of the degenerative process are altered. Photoreceptor functional deficit and cell death manifest much earlier, suggesting that the diseased RPE accelerates photoreceptor degeneration.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.