autosomal dominant optic atrophy plus syndrome
MeSH: C535351ORPHA: 1215
Overview
human disease
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 autosomal dominant optic atrophy plus syndrome, sourced from HPO and Orphanet clinical annotations.
Progressive visual lossOptic atrophySensorineural hearing impairmentProgressive external ophthalmoplegiaAbnormality of visual evoked potentialsBilateral ptosisMyopathyLimb-girdle muscle weaknessMitochondrial myopathyAbsent brainstem auditory responsesFatigueAbnormal retinal nerve fiber layer morphologyEMG: impaired neuromuscular transmissionSensory neuropathyConstriction of peripheral visual fieldAtaxiaSpastic paraplegiaPes cavusAbsent Achilles reflexEMG: chronic denervation signsMotor axonal neuropathyPeripheral neuropathyTemporal optic disc pallorDiabetes mellitusCardiomyopathyMigraine
Classification & Codes
MeSH Code
C535351Orphanet Code
ORPHA:1215autosomal dominant optic atrophy plus syndrome
| MeSH | C535351 |
| Orphanet | ORPHA:1215 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO