early-onset X-linked optic atrophy

MeSH: C537125ORPHA: 98890

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 early-onset X-linked optic atrophy, sourced from HPO and Orphanet clinical annotations.

Progressive visual lossOptic disc pallorColor vision defectCentral scotomaOptic atrophyReduced visual acuityNystagmusEmotional labilityDecreased nerve conduction velocityIntellectual disabilityChoreoathetosisGait ataxiaDysdiadochokinesisIntention tremorBabinski signAsterixisAbnormal nervous system physiology

Classification & Codes

MeSH Code

C537125

Orphanet Code

ORPHA:98890
early-onset X-linked optic atrophy
MeSHC537125
OrphanetORPHA:98890
Treatments0 drug(s)
Symptoms on record17 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO