choroideremia
MeSH: D015794ORPHA: 180
Overview
rare, X-linked recessive form of hereditary retinal degeneration
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with choroideremia, sourced from HPO and Orphanet clinical annotations.
Visual impairmentAbnormal electroretinogramMyopiaNyctalopiaAbnormal retinal pigmentationProgressive visual lossConstriction of peripheral visual fieldChorioretinal scalloped atrophyPeripheral visual field lossChorioretinal atrophyColor vision defectPosterior subcapsular cataractChoroidal neovascularizationAbnormal fundus autofluorescence imagingMacular edema
Classification & Codes
MeSH Code
D015794Orphanet Code
ORPHA:180choroideremia
| MeSH | D015794 |
| Orphanet | ORPHA:180 |
| Treatments | 0 drug(s) |
| Symptoms on record | 15 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO