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Glaucoma secondary to spherophakia/ectopia lentis and megalocornea

Disease definition

Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.

ORPHA:238763

Classification level: Disorder
  • Synonym(s):
    • Megalocornea-spherophakia-secondary glaucoma syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q15.8
  • OMIM: 251750
  • UMLS: -
  • MeSH: -
  • GARD: 10942
  • MedDRA: -

Additional information

Further information on this disease

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