Usher syndrome type 2
ORPHA: 231178
Overview
Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa
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 Usher syndrome type 2, sourced from HPO and Orphanet clinical annotations.
Abnormality of the inner earSensorineural hearing impairmentRod-cone dystrophyAbnormal electroretinogramVisual lossScotomaIris hypopigmentationCataractMyopiaNyctalopiaConstriction of peripheral visual fieldSleep disturbanceReduced visual acuityPeripheral visual field lossFatigueColor vision defectDepressionAnxietyGait imbalanceReduced contrast sensitivityAbnormal vestibular function
Classification & Codes
Orphanet Code
ORPHA:231178Usher syndrome type 2
| Orphanet | ORPHA:231178 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO