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Isolated congenital megalocornea

Disease definition

Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma.

ORPHA:91489

Classification level: Disorder
  • Synonym(s):
    • Congenital anterior megalophthalmia
  • Prevalence: -
  • Inheritance: X-linked recessive 
  • Age of onset: -
  • ICD-10: Q15.8
  • ICD-11: LA11.1
  • OMIM: 309300
  • UMLS: -
  • MeSH: -
  • GARD: 12648
  • MedDRA: -

  A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017) Polski (2017, pdf)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.