ArticleHuman molecular genetics2016
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.
Article in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 21 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
21 citing papers in PubMed, 36 citations in OpenAlex.
- Location and Identity of Photoreceptors Contributing to the Full-Field Stimulus Test (FST).Investigative ophthalmology & visual science · 2025Review
- Photoreceptor Disease at Ambiguous Transition Zones in Inherited Retinal Degenerations.Translational vision science & technology · 2025Article
- Retinal degeneration inFrontiers in cell and developmental biology · 2023Article
- Identification of circular RNAs hosted by theRNA biology · 2023Article
- Characterizing Visual Fields in RPGR Related Retinitis Pigmentosa Using Octopus Static-Automated Perimetry.Translational vision science & technology · 2022Article
- Article
- Macular Rod Function in Retinitis Pigmentosa Measured With Scotopic Microperimetry.Translational vision science & technology · 2021Article
- RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP).Human molecular genetics · 2021Article
- Candidate Genetic Modifiers for RPGR Retinal Degeneration.Investigative ophthalmology & visual science · 2020Article
- Rod function deficit in retained photoreceptors of patients with class B Rhodopsin mutations.Scientific reports · 2020Article
- Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives.Progress in retinal and eye research · 2020Review
- Comparing Cone Structure and Function in RHO- and RPGR-Associated Retinitis Pigmentosa.Investigative ophthalmology & visual science · 2020Article
- Toxicity and Efficacy Evaluation of an Adeno-Associated Virus Vector Expressing Codon-OptimizedHuman gene therapy · 2020Article
- Article
- Foveal Therapy in Blue Cone Monochromacy: Predictions of Visual Potential From Artificial Intelligence.Frontiers in neuroscience · 2020Article
- Optical Coherence Tomography Angiography of RPGR-Associated Retinitis Pigmentosa Suggests Foveal Avascular Zone is a Biomarker for Vision Loss.Ophthalmic surgery, lasers & imaging retina · 2019Article
- Retinal Phenotype in the rd9 Mutant Mouse, a Model of X-Linked RP.Frontiers in neuroscience · 2019Article
- Imaging Lenticular Autofluorescence in Older Subjects.Investigative ophthalmology & visual science · 2017Article
- 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
Corrections and comments
- Erratum issued
Authors and funding
14 authors at 7 institutions in 3 countries.
Funding
Abstract
Mutations in the ORF15 exon of the RPGR gene cause a common form of X-linked retinitis pigmentosa, which often results in severe loss of vision. In dogs and mice, gene augmentation therapy has been shown to arrest the progressive degeneration of rod and cone photoreceptors. However, the distribution of potentially treatable photoreceptors across the human retinas and the rate of degeneration are not known. Here, we have defined structural and functional features of the disease in 70 individuals with ORF15 mutations. We also correlated the features observed in patients with those of three Rpgr-mutant (Rpgr-ko, Rd9, and Rpgr-cko) mice. In patients, there was pronounced macular disease. Across the retina, rod and cone dysfunction showed a range of patterns and a spectrum of severity between individuals, but a high symmetry was observed between eyes of each individual. Genotype was not related to disease expression. In the Rpgr-ko mice, there were intra-retinal differences in rhodopsin and cone opsin trafficking. In Rd9 and Rpgr-cko mice, retinal degeneration showed inter-ocular symmetry. Longitudinal results in patients revealed localized rod and cone dysfunction with progression rates of 0.8 to 1.3 log per decade in sensitivity loss. Relatively retained rod and cone photoreceptors in mid- and far-peripheral temporal-inferior and nasal-inferior visual field regions should be good targets for future localized gene therapies in patients.
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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.