ReviewRetina (Philadelphia, Pa.)2019
CHOROIDEREMIA: Retinal Degeneration With an Unmet Need.
Review in Retina (Philadelphia, Pa.), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Bilateral visual acuity decline in males with choroideremia: a pooled, cross-sectional meta-analysis.BMC ophthalmology · 2022Pooled it
- Subretinal timrepigene emparvovec in adult men with choroideremia: a randomized phase 3 trial.Nature medicine · 2023Trial
- Progression of Macular Tissue Loss in Choroideremia and Its Association with Baseline Fundus Autofluorescence Morphology.Ophthalmology science · 2026Article
- Cone Contrast and Entropy of Adaptive Optics Images in Choroideremia.Current eye research · 2026Article
- Directional Analysis of Residual RPE Area Loss in the Natural History of Choroideremia.Investigative ophthalmology & visual science · 2026Article
- Comparative Analysis of Retinal Structure and Function in Female Carriers of Choroideremia and X-Linked Retinitis Pigmentosa.Translational vision science & technology · 2026Article
- Efficacy and safety of AAV-mediated gene therapy for choroideremia: a systematic review and meta-analysis.EClinicalMedicine · 2026Article
- Review
- FOVEA: Preoperative and intraoperative retinal fundus images with optic disc and retinal vessel annotations.Scientific data · 2025Article
- Genetic Analysis of Choroideremia-Related Rab Escort Proteins.International journal of molecular sciences · 2025Article
- 12-year cumulative incidence rate of rare retinal diseases: a nationwide study in Korea.Eye (London, England) · 2025Article
- Retinal oxygen metabolic function in choroideremia and retinitis pigmentosa.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2025Observational
- Non-Viral Delivery Systems to Transport Nucleic Acids for Inherited Retinal Disorders.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Parafoveal cone function in choroideremia assessed with adaptive optics optoretinography.Scientific reports · 2024Article
- Advances in the engineering of the outer blood-retina barrier: From in-vitro modelling to cellular therapy.Bioactive materials · 2024Review
- Cone Photoreceptor Morphology in Choroideremia Assessed Using Non-Confocal Split-Detection Adaptive Optics Scanning Light Ophthalmoscopy.Investigative ophthalmology & visual science · 2023Article
- Nanoparticles-mediated CRISPR-Cas9 gene therapy in inherited retinal diseases: applications, challenges, and emerging opportunities.Journal of nanobiotechnology · 2022Review
- Clinical and imaging findings of choroideremia in a pediatric patient due to a novel frameshift mutation.American journal of ophthalmology case reports · 2022Article
- Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics.Communications biology · 2022Article
- Newer therapeutic options for inherited retinal diseases: Gene and cell replacement therapy.Indian journal of ophthalmology · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 4 institutions in 1 country.
Funding
Abstract
purposeChoroideremia is an incurable, X-linked, recessive retinal dystrophy caused by loss of function mutations in the CHM gene. It is estimated to affect approximately 1 in 50,000 male patients. It is characterized by progressive degeneration of the retinal pigment epithelium, choroid, and photoreceptors, resulting in visual impairment and blindness. There is an unmet need in choroideremia, because currently, there are no approved treatments available for patients with the disease.
methodsWe review the patient journey, societal impact, and emerging treatments for patients with choroideremia.
resultsIts relative rarity and similarities with other retinal diseases in early years mean that diagnosis of choroideremia can often be delayed. Furthermore, its impact on affected individuals, and wider society, is also likely underestimated. AAV2-mediated gene therapy is an investigational treatment that aims to replace the faulty CHM gene. Early-phase studies reported potentially important visual acuity gains and maintenance of vision in some patients, and a large Phase 3 program is now underway.
conclusionChoroideremia is a disease with a significant unmet need. Interventions that can treat progression of the disease and improve visual and functional outcomes have the potential to reduce health care costs and enhance patient quality of life.
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What OpenQuestion holds
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.