Short answer · Medically reviewed summary · Last updated: 2026-05-08
Choroideremia is a rare, X-linked genetic disorder primarily characterized by progressive vision loss. While the clinical term Choroideremia is the internationally accepted standard, it is sometimes historically referred to as progressive tapetochoroidal dystrophy or TCD in older medical literature. Why does Choroideremia have multiple names? The naming of Choroideremia has evolved alongside our understanding of its genetic basis.
Choroideremia synonyms
Other names for Choroideremia: synonyms, acronyms and related terms used by doctors and patients.
Choroideremia is a rare, X-linked genetic disorder primarily characterized by progressive vision loss. While the clinical term Choroideremia is the internationally accepted standard, it is sometimes historically referred to as progressive tapetochoroidal dystrophy or TCD in older medical literature.
Why does Choroideremia have multiple names?
The naming of Choroideremia has evolved alongside our understanding of its genetic basis. Historically, the condition was described by the appearance of the retina, leading to terms like "progressive tapetochoroidal dystrophy." Because Choroideremia was once thought to be a form of retinitis pigmentosa, older clinical records may sometimes misclassify it under broader headings. Today, the name Choroideremia is preferred as it specifically describes the degeneration of the choroid and retinal pigment epithelium caused by mutations in the CHM gene.
What are the common synonyms and abbreviations?
When searching for information or reviewing medical files, you may encounter several alternative labels. It is important to recognize these variations to ensure you are accessing accurate, peer-reviewed data:
- TCD (Tapetochoroidal Dystrophy)
- CHC (Choroideremia type 1 or 2, though these sub-classifications are now rarely used)
- Progressive choroidal atrophy
- Tapetochoroidal dystrophy
How is Choroideremia classified in medical databases?
Standardized nomenclature is essential for global research and patient support. In major medical classification systems, Choroideremia is categorized as follows:
- OMIM (Online Mendelian Inheritance in Man): #303100
- Orphanet: ORPHA166
- ICD-10: H31.2 (Hereditary retinal dystrophy)
- GARD (Genetic and Rare Diseases Information Center): Accession ID 5991
Next steps
- Consult a retinal specialist or a clinical geneticist to confirm your diagnosis using current CHM gene testing.
- Connect with the 96 members of the Choroideremia community at DiseaseMaps.org to share experiences and coping strategies.
- Monitor clinical trial registries (such as ClinicalTrials.gov) for updates on emerging gene therapies for Choroideremia.
Medical disclaimer: This information is for educational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician regarding a medical condition.
References
- Orphanet (ORPHA166): Choroideremia.
- NIH GARD (GARD:5991): Choroideremia.
- OMIM (303100): Choroideremia; CHM.
- Choroideremia Research Foundation (CRF).
