Norrie disease
MeSH: C537849ORPHA: 649
Overview
genetic disorder that primarily affects the eye and almost always leads to blindness
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 Norrie disease, sourced from HPO and Orphanet clinical annotations.
CryptorchidismThin vermilion borderMicrocephalyMalar flatteningAbnormal cochlea morphologyMacrotiaSensorineural hearing impairmentProtruding earNarrow nasal bridgeDeeply set eyeGlaucomaCataractAbnormal chorioretinal morphologyRetinal detachmentMicrophthalmiaHypotelorismAbnormal pupil morphologyBlindnessNystagmusSclerocorneaOptic atrophyAtypical behaviorPsychosisAutismMotor stereotypyIrritabilityHallucinationsAnxietyDiabetes mellitusDelayed pubertyEctopia lentisSeizureHypotoniaHypertoniaMuscle weaknessHyperreflexiaFailure to thriveMigraineCerebral cortical atrophyClonusEEG abnormalitySleep disturbanceDevelopmental regressionScoliosisCachexiaAbnormal vitreous humor morphologyVenous insufficiencyIntellectual disabilityAttention deficit hyperactivity disorderAplasia/Hypoplasia of the cerebellumHypoplasia of the irisAnterior chamber synechiaeCorneal opacityRemnants of the hyaloid vascular systemAbnormal retinal vascular morphologyAplasia/Hypoplasia of the lensAbnormal diencephalon morphologyAbnormality of immune system physiologyAbnormal helix morphologyNeoplasm of the eyeErectile dysfunctionSelf-injurious behaviorUterine ruptureVascular neoplasm
Classification & Codes
MeSH Code
C537849Orphanet Code
ORPHA:649Norrie disease
| MeSH | C537849 |
| Orphanet | ORPHA:649 |
| Treatments | 0 drug(s) |
| Symptoms on record | 64 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO