Leber hereditary optic neuropathy

MeSH: D029242ORPHA: 1041 Treatment Available

Overview

Human disease

Available Treatments (1)

DrugFormStatusCountriesLead Time
idebenone
Orphan
oral tablet, 150 mgEMA Approved921d

Clinical Presentation

Signs and symptoms associated with Leber hereditary optic neuropathy, sourced from HPO and Orphanet clinical annotations.

Slow decrease in visual acuityMitochondrial respiratory chain defectsProgressive visual lossCentrocecal scotomaCentral scotomaBlurred visionOptic atrophyRetinal telangiectasiaRetinal vascular tortuosityAbnormal electroretinogramColor vision defectAbnormality of visual evoked potentialsAtaxiaPostural tremorMyopathyVentricular preexcitationPeripheral neuropathyArrhythmiaRetinal nerve fiber edemaReduced contrast sensitivity

Classification & Codes

MeSH Code

D029242

Orphanet Code

ORPHA:104
Leber hereditary optic neuropathy
MeSHD029242
OrphanetORPHA:104
Treatments1 drug(s)
Symptoms on record20 signs
Statuspublished

Treatment Summary

Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO