ReviewCold Spring Harbor perspectives in medicine2014
Leber congenital amaurosis caused by mutations in RPGRIP1.
Review in Cold Spring Harbor perspectives in medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed.
- Differential Neurodevelopmental Toxicity of Propofol and Fospropofol: Mechanistic Insights and Potential Clinical Implications-A Zebrafish Model Study.International journal of molecular sciences · 2026Article
- Subterranean Traits of the Visual System in Mandarin Voles (Lasiopodomys mandarinus): Structural Remodeling and Functional Degeneration.Integrative zoology · 2026Article
- Delayed-onset cord1 progressive retinal atrophy in English Springer Spaniels genetically affected with the RPGRIP1 variant.Veterinary ophthalmology · 2026Article
- The Structural Abnormalities Are Deeply Involved in the Cause ofInternational journal of molecular sciences · 2023Article
- Natural disease history of a canine model of oligogenic RPGRIP1-cone-rod dystrophy establishes variable effects of previously and newly mapped modifier loci.Human molecular genetics · 2023Article
- Article
- Super-resolution microscopy reveals photoreceptor-specific subciliary location and function of ciliopathy-associated protein CEP290.JCI insight · 2021Article
- Review
- Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype-Phenotype Correlation in 228 Patients.Frontiers in cell and developmental biology · 2021Article
- Gene Therapy in Inherited Retinal Diseases: An Update on Current State of the Art.Frontiers in medicine · 2021Review
- Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives.Progress in retinal and eye research · 2020Review
- Voretigene Neparvovec and Gene Therapy for Leber's Congenital Amaurosis: Review of Evidence to Date.The application of clinical genetics · 2020Review
- The Role of the Microglial Cx3cr1 Pathway in the Postnatal Maturation of Retinal Photoreceptors.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2018Article
- Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing.Journal of cellular and molecular medicine · 2018Article
- Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice.Experimental eye research · 2018Article
- Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.The British journal of ophthalmology · 2017Review
- Open Sesame: How Transition Fibers and the Transition Zone Control Ciliary Composition.Cold Spring Harbor perspectives in biology · 2017Review
- Article
- RPGR: Its role in photoreceptor physiology, human disease, and future therapies.Experimental eye research · 2015Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
Abstract
Recessive null mutations in retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) gene are the cause of LCA6 and account for 5% to 6% of the total patient population. RPGRIP1 has an essential role in the photoreceptor connecting cilia, and photoreceptors lacking RPGRIP1 are unable to maintain the light sensing outer segments. As a result, patients lose retinal functions at an early age but retain photoreceptors in the central retina well into adulthood thus holding out the prospect for gene augmentation therapies. Laboratory studies in animal models have demonstrated efficacy of gene therapy in slowing disease progression. With further refinement in the design of the replacement gene construct, clinical trials for Leber congenital amaurosis (LCA) caused by RPGRIP1 mutations could be in the offing in the near future.
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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.