blepharoptosis-myopia-ectopia lentis syndrome
MeSH: C536236ORPHA: 12592 Treatments Available
Overview
This syndrome is characterised by bilateral congenital blepharoptosis, ectopia lentis and high myopia
Available Treatments (2)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| Acetazolamide | Oral tablets 125mg, 250mg; Injectable powder for reconstitution 500mg | FDA Approved | 11 | 2d |
| botulinum toxin type A Cold Chain | powder for injection 50 units, 100 units, 200 units per vial | FDA Approved | 9 | 14d |
Clinical Presentation
Signs and symptoms associated with blepharoptosis-myopia-ectopia lentis syndrome, sourced from HPO and Orphanet clinical annotations.
Prominent occiputGlaucomaPtosisMyopiaIris colobomaEctopia lentisAbnormal retinal pigmentationAbnormal helix morphologyPalpebral edemaFingernail dysplasia
Classification & Codes
MeSH Code
C536236Orphanet Code
ORPHA:1259blepharoptosis-myopia-ectopia lentis syndrome
| MeSH | C536236 |
| Orphanet | ORPHA:1259 |
| Treatments | 2 drug(s) |
| Symptoms on record | 10 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO