oculocutaneous albinism type 1

MeSH: C537729ORPHA: 352731

Overview

medical condition

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 oculocutaneous albinism type 1, sourced from HPO and Orphanet clinical annotations.

PhotophobiaBlue iridesNystagmusAbnormality of visual evoked potentialsCutaneous photosensitivityGeneralized hypopigmentationReduced visual acuityFundus hypopigmentationIris hypopigmentationHypoplasia of the foveaGeneralized hypopigmentation of hairIris transillumination defectOptic nerve misroutingAbnormal morphology of the choroidal vasculatureStrabismusAmblyopiaWhite eyebrowWhite eyelashesThickened skinNeoplasm of the skinActinic keratosis

Classification & Codes

MeSH Code

C537729

Orphanet Code

ORPHA:352731
oculocutaneous albinism type 1
MeSHC537729
OrphanetORPHA:352731
Treatments0 drug(s)
Symptoms on record21 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO