optic atrophy 8
ORPHA: 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 optic atrophy 8, 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
Orphanet Code
ORPHA:1215optic atrophy 8
| 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