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Blepharoptosis-myopia-ectopia lentis syndrome

Disease definition

A rare, genetic, lens position anomaly disease characterized by bilateral congenital blepharoptosis, ectopia lentis and high grade myopia. Additional reported manifestations include abnormally long eye globes and signs of levator aponeurosis disinsertion. There have been no further descriptions in the literature since 1982.

ORPHA:1259

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: Q15.8
  • OMIM: 110150
  • UMLS: C1862259
  • MeSH: C536236
  • GARD: 912
  • MedDRA: -
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