Research Evidence
Peer-reviewed studies linked via MeSH term "Choroideremia" from the MEDLINE/PubMed database.
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Bilateral visual acuity decline in males with choroideremia: a pooled, cross-sectional meta-analysis.
[object Object], [object Object], [object Object] et al. · BMC Ophthalmol · 2022
Long-term natural history of visual acuity in eyes with choroideremia: a systematic review and meta-analysis of data from 1004 individual eyes.
[object Object], [object Object], [object Object] et al. · Br J Ophthalmol · 2021
Long-term Natural History of Atrophy in Eyes with Choroideremia-A Systematic Review and Meta-analysis of Individual-Level Data.
[object Object], [object Object], [object Object] et al. · Ophthalmol Retina · 2020
Subretinal timrepigene emparvovec in adult men with choroideremia: a randomized phase 3 trial.
[object Object], [object Object], [object Object] et al. · Nat Med · 2023
The Argus II epiretinal prosthesis system allows letter and word reading and long-term function in patients with profound vision loss.
[object Object], [object Object], [object Object] et al. · Br J Ophthalmol · 2013
Gene therapy for choroideremia: progress, potential and pitfalls.
[object Object], [object Object], [object Object] · Expert Opin Biol Ther · 2025
X-Linked Choroideremia.
[object Object], [object Object], [object Object] et al. · Adv Exp Med Biol · 2025
PMID: 40736811Review
Female carriers of X-linked inherited retinal diseases - Genetics, diagnosis, and potential therapies.
[object Object], [object Object], [object Object] et al. · Prog Retin Eye Res · 2023
PMID: 37406879Review
disorders: what's in a name?
[object Object], [object Object] · Ophthalmic Genet · 2023
Choroideremia: The Endpoint Endgame.
[object Object], [object Object], [object Object] et al. · Int J Mol Sci · 2023
Search all PubMed articles for Choroideremia
Research data from MEDLINE/PubMed
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Hypopigmentation of the fundus
Always present (100%)HP:0007894
Retinal pigmentary degeneration
Always present (100%)HP:0000580
Abnormal ERG
Very frequent (80-99%)HP:0000512
Difficulties with night vision
Very frequent (80-99%)HP:0000662
Impaired vision
Very frequent (80-99%)HP:0000505
Near sighted
Very frequent (80-99%)HP:0000545
Retinal pigmentary anomaly
Very frequent (80-99%)HP:0007703
Attenuation of retinal blood vessels
Frequent (30-79%)HP:0007843
Choroideremia
Frequent (30-79%)HP:0001139
Constriction of peripheral visual field
Frequent (30-79%)HP:0001133
Decreased visual acuity, progressive
Frequent (30-79%)HP:0000529
Fundus with peripheral bony spicules
Frequent (30-79%)HP:0007737
Tunnel vision
Frequent (30-79%)HP:0007994
Abnormal fundus autofluorescence imaging
Occasional (5-29%)HP:0030602
Chorioretinal atrophy
Occasional (5-29%)HP:0000533
Choroidal neovascular membrane
Occasional (5-29%)HP:0011506
Color vision defect, severe
Occasional (5-29%)HP:0000551
Granular macular appearance
Occasional (5-29%)HP:0007793
Macular oedema
Occasional (5-29%)HP:0040049
Nummular pigmentation of the fundus
Occasional (5-29%)HP:0030505
Posterior subcapsular cataracts
Occasional (5-29%)HP:0007787
RPE irregularity
Occasional (5-29%)HP:0007814
Quick Facts
- SNOMED CT
- 75241009
- UMLS CUI
- C0008525
- Fully Specified Name
- Choroideremia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 22
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.