retinitis pigmentosa-deafness syndrome
ORPHA: 231183
Overview
Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome
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 retinitis pigmentosa-deafness syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormal vestibular functionAbnormal cochlea morphologySensorineural hearing impairmentRod-cone dystrophyAbnormal electroretinogramVisual lossScotomaNyctalopiaVestibular hyporeflexiaIris hypopigmentationDepressionAnxiety
Classification & Codes
Orphanet Code
ORPHA:231183retinitis pigmentosa-deafness syndrome
| Orphanet | ORPHA:231183 |
| Treatments | 0 drug(s) |
| Symptoms on record | 12 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO