ArticlePloS one2016
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 2 of them syntheses that pooled it.
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Who cites it
24 citing papers in PubMed, 2 syntheses or guidelines pooled it, 46 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
- Directional Analysis of Residual RPE Area Loss in the Natural History of Choroideremia.Investigative ophthalmology & visual science · 2026Article
- Review
- Readthrough Approach Using NV Translational Readthrough-Inducing Drugs (TRIDs): A Study of the Possible Off-Target Effects on Natural Termination Codons (NTCs) on TP53 and Housekeeping Gene Expression.International journal of molecular sciences · 2023Article
- Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date.Molecular diagnosis & therapy · 2021Article
- Expression of Rab Prenylation Pathway Genes and Relation to Disease Progression in Choroideremia.Translational vision science & technology · 2021Article
- Comparing Fluorescence Lifetime Imaging Ophthalmoscopy in Atrophic Areas of Retinal Diseases.Translational vision science & technology · 2021Article
- Whole-exome sequencing identified a novel mutation inJournal of genetics · 2021Article
- A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient.Molecular genetics & genomic medicine · 2020Article
- Fluorescence Lifetime Imaging Ophthalmoscopy (FLIO) in Patients with Choroideremia.Translational vision science & technology · 2020Article
- Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novelHuman genome variation · 2020Article
- Article
- Choroideremia: Update On Clinical Features And Emerging Treatments.Clinical ophthalmology (Auckland, N.Z.) · 2019Review
- Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment.Orphanet journal of rare diseases · 2018Article
- A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.Scientific reports · 2018Article
- Deep learning for the segmentation of preserved photoreceptors onBiomedical optics express · 2018Article
- The Biological Activity of AAV Vectors for Choroideremia Gene Therapy Can Be Measured byMolecular therapy. Methods & clinical development · 2018Article
- The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy.Scientific reports · 2018Article
- Automated detection of preserved photoreceptor on optical coherence tomography in choroideremia based on machine learning.Journal of biophotonics · 2018Article
Corrections and comments
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Authors and funding
21 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Choroideremia (CHM) is a rare X-linked disease leading to progressive retinal degeneration resulting in blindness. The disorder is caused by mutations in the CHM gene encoding REP-1 protein, an essential component of the Rab geranylgeranyltransferase (GGTase) complex. In the present study, we evaluated a multi-technique analysis algorithm to describe the mutational spectrum identified in a large cohort of cases and further correlate CHM variants with phenotypic characteristics and biochemical defects of choroideremia patients. Molecular genetic testing led to the characterization of 36 out of 45 unrelated CHM families (80%), allowing the clinical reclassification of four CHM families. Haplotype reconstruction showed independent origins for the recurrent p.Arg293* and p.Lys178Argfs*5 mutations, suggesting the presence of hotspots in CHM, as well as the identification of two different unrelated events involving exon 9 deletion. No certain genotype-phenotype correlation could be established. Furthermore, all the patients´ fibroblasts analyzed presented significantly increased levels of unprenylated Rabs proteins compared to control cells; however, this was not related to the genotype. This research demonstrates the major potential of the algorithm proposed for diagnosis. Our data enhance the importance of establish a differential diagnosis with other retinal dystrophies, supporting the idea of an underestimated prevalence of choroideremia. Moreover, they suggested that the severity of the disorder cannot be exclusively explained by the genotype.
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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.