achromatopsia
ORPHA: 49382
Overview
human illness, a type of color blindness
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 achromatopsia, sourced from HPO and Orphanet clinical annotations.
Abnormality of refractionColor vision defectPhotophobiaMonochromacyPendular nystagmusUndetectable light-adapted electroretinogramColor vision test abnormalityInner retinal layer loss on macular OCTHypermetropiaMyopiaCentral scotomaReduced visual acuityHypoplasia of the foveaAbsent foveal reflexAbnormal macular morphologyAbnormal pupillary light reflexRetinal pigment epithelial mottlingAttenuation of retinal blood vesselsEccentric visual fixationRetinal pigment epithelial atrophy
Classification & Codes
Orphanet Code
ORPHA:49382achromatopsia
| Orphanet | ORPHA:49382 |
| Treatments | 0 drug(s) |
| Symptoms on record | 20 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO