About Choroideremia
Choroideremia is an X-linked progressive retinal dystrophy caused by loss-of-function mutations in the CHM gene, which encodes Rab Escort Protein 1 (REP1), a protein required for normal vesicle trafficking in retinal cells. The disease is characterised by progressive degeneration of the choroid, retinal pigment epithelium, and photoreceptors beginning in the peripheral retina and advancing centripetally, ultimately leading to legal blindness in affected males, usually in mid-life. Female carriers are typically asymptomatic but exhibit patchy areas of chorioretinal atrophy and may have subtle visual symptoms.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Choroideremia trials.
Molecular confirmation of a CHM pathogenic variant is required; because this is a single-gene disease, genetic testing is straightforward and results are usually unambiguous.
Area of remaining intact retina (ellipsoid zone) measured by fundus autofluorescence and OCT is the key eligibility parameter in most gene therapy trials; preserve recent imaging records.
Affected males of a broad age range are typically eligible, but trials often exclude those with very limited residual central vision; enrol while central acuity is still measurable.
Patient Resources
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