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Congenital microcoria

Disease definition

Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma.

ORPHA:566

  • Synonym(s):
    • Congenital miosis
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 156600
  • UMLS: C1303009
  • MeSH: C537550
  • GARD: 3635
  • MedDRA: -

Additional information

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