ArticleMolecular genetics & genomic medicine2016
Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy.
Article in Molecular genetics & genomic medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 3 of them syntheses that pooled it.
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
24 citing papers in PubMed, 3 syntheses or guidelines pooled it, 60 citations in OpenAlex.
- Bilateral visual acuity decline in males with choroideremia: a pooled, cross-sectional meta-analysis.BMC ophthalmology · 2022Pooled it
- Long-term natural history of visual acuity in eyes with choroideremia: a systematic review and meta-analysis of data from 1004 individual eyes.The British journal of ophthalmology · 2021Pooled it
- Long-term Natural History of Atrophy in Eyes with Choroideremia-A Systematic Review and Meta-analysis of Individual-Level Data.Ophthalmology. Retina · 2020Pooled it
- The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype.Investigative ophthalmology & visual science · 2016Trial
- A Qualitative and Quantitative Assessment of Fundus Autofluorescence Patterns in Patients With Choroideremia.Investigative ophthalmology & visual science · 2016Trial
- Modified cyclodialysis suturing with sodium hyaluronate for traumatic choroidal avulsion and cyclodialysis: a retrospective study.International journal of retina and vitreous · 2026Article
- Deficiency disrupts photoreceptor viability and synaptic integrity in a choroideremia mouse model.Cell death & disease · 2025Article
- Clinical and imaging findings of choroideremia in a pediatric patient due to a novel frameshift mutation.American journal of ophthalmology case reports · 2022Article
- Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa.Journal of Korean medical science · 2022Article
- Long-Term Outcomes and Risk Factors for Severe Vision Loss in Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV).American journal of ophthalmology · 2022Observational
- Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date.Molecular diagnosis & therapy · 2021Article
- Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation ofGenes · 2021Article
- Expression of Rab Prenylation Pathway Genes and Relation to Disease Progression in Choroideremia.Translational vision science & technology · 2021Article
- US Health Resource Utilization and Cost Burden Associated with Choroideremia.Clinical ophthalmology (Auckland, N.Z.) · 2021Article
- Fluorescence Lifetime Imaging Ophthalmoscopy (FLIO) in Patients with Choroideremia.Translational vision science & technology · 2020Article
- Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia.Investigative ophthalmology & visual science · 2020Article
- Association of Messenger RNA Level With Phenotype in Patients With Choroideremia: Potential Implications for Gene Therapy Dose.JAMA ophthalmology · 2020Observational
- Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novelHuman genome variation · 2020Article
- CHOROIDEREMIA: Retinal Degeneration With an Unmet Need.Retina (Philadelphia, Pa.) · 2019Review
- Molecular Therapies for Choroideremia.Genes · 2019Review
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundChoroideremia (CHM) is an X-linked degeneration of the retinal pigment epithelium, photoreceptors, and choroid, which causes nyctalopia and progressive constriction of visual fields leading to blindness. The CHM gene encodes Rab escort protein 1 (REP-1). In this work, we reviewed the phenotypes and genotypes of affected males with the purpose of understanding the functional effects of CHM mutations and their relationship with the phenotypes.
methodsA retrospective review of 128 affected males was performed analyzing the onset of symptoms, visual acuity, and visual fields with respect to their mutations in the CHM gene.
resultsIn rank order, reflecting data from this report, the most common mutations found in the CHM gene were nonsense mutations (41%), exon deletions (37%), and splice sites (14%) associated with a loss of functional protein. In the pool of 106 CHM mutations, we discovered four novel missense mutations (c.238C>T; p.L80F, c.819G>T; p.Q273H, c.1327A>G; p.M443V, and c.1370C>T; p.L457P) predicted to be severe changes affecting protein stability and folding with the effect similar to that of other types of mutations. No significant genotype-phenotype correlation was found with respect to the onset of nyctalopia, the onset of other visual symptoms, visual acuity, or width of visual fields.
conclusionThere is no evidence to support exclusion of CHM patients from clinical trials based on their genotypes or any potential genotype-phenotype correlations.
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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.