Kjer's optic neuropathy
ORPHA: 98673
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 Kjer's optic neuropathy, sourced from HPO and Orphanet clinical annotations.
Visual impairmentOptic atrophySensorineural hearing impairmentColor vision defectOphthalmoplegiaSensorimotor neuropathyTemporal optic disc pallorMorning glory anomalyModerately reduced visual acuityPtosisCentral scotomaAtaxiaGait disturbanceMyopathyHypogonadismCataractNystagmusDementiaHallucinationsDiabetes mellitusHypothyroidismSeizureSpasticitySpastic paraplegiaGlobal developmental delayHemiparesisCerebellar atrophyAreflexiaPes cavusMacrocytic anemiaDysphagiaMigraineBasal ganglia calcificationAbnormal periventricular white matter morphologySkeletal muscle atrophyMyalgiaScapular wingingAtrophy/Degeneration affecting the brainstemCorpus callosum atrophyDuane anomalyFeeding difficultiesFatigueWeakness of facial musculatureCognitive impairment
Classification & Codes
Orphanet Code
ORPHA:98673Kjer's optic neuropathy
| Orphanet | ORPHA:98673 |
| Treatments | 0 drug(s) |
| Symptoms on record | 44 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO