autosomal dominant optic atrophy and cataract
MeSH: C537128ORPHA: 67036
Overview
gene (19q13.32).
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 and cataract, sourced from HPO and Orphanet clinical annotations.
Visual impairmentOptic atrophyReduced visual acuityCataractCentral scotomaNystagmusAtaxiaCerebellar atrophyAreflexiaPostural tremorUnsteady gaitAreflexia of lower limbsMuscle spasmParesthesiaSomatic sensory dysfunctionPosterior cortical cataractPainTritanomalyBlindnessRed-green dyschromatopsiaAbnormal thumb morphologyReduced tendon reflexesLimited elbow extensionPes cavusResting tremorPositive Romberg signAbsent Achilles reflexLimited wrist movementExtrapyramidal muscular rigidityPosterior subcapsular cataractAnterior cortical cataractCerulean cataractDeviation of the 2nd fingerDyslexiaAnterior subcapsular cataract
Classification & Codes
MeSH Code
C537128Orphanet Code
ORPHA:67036autosomal dominant optic atrophy and cataract
| MeSH | C537128 |
| Orphanet | ORPHA:67036 |
| Treatments | 0 drug(s) |
| Symptoms on record | 35 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO