isolated aniridia
ORPHA: 250923
Overview
Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris
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 isolated aniridia, sourced from HPO and Orphanet clinical annotations.
AniridiaVisual lossNystagmusReduced visual acuityHypoplasia of the irisHypoplasia of the foveaAplasia/Hypoplasia of the maculaStrabismusGlaucomaCataractRed-green dyschromatopsiaPeters anomalyEctopia lentisKeratoconjunctivitis siccaFundus hypopigmentationCorneal opacityCorneal neovascularizationAbnormal full-field electroretinogramAbnormal multifocal electroretinogramAbnormal foveal pit on macular OCTLimbal stem cell deficiencyPtosisMicrophthalmiaOptic nerve hypoplasiaPhotophobiaMicrospherophakiaLens coloboma
Classification & Codes
Orphanet Code
ORPHA:250923isolated aniridia
| Orphanet | ORPHA:250923 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO