Autosomal dominant congenital miosis with megalocornea

Ophthalmic Paediatr Genet. 1992 Jun;13(2):123-9. doi: 10.3109/13816819209087612.


A family with AD congenital miosis is presented. The ocular symptoms were: megalocornea, iris translucency, microcoria with poor pupillary dilatation and goniodysgenesis with anterior insertion of the iris. This observation confirms that in congenital miosis abnormal development of the whole anterior eye segment may occur. The patients have an increased risk to develop glaucoma. If retinoscopy is impossible due to pin-point pupils, ultrasonic biometry to determine the axial length is recommended. An optical iridectomy could improve visual performance at low illumination; the complaints of photophobia, which are related to the iris translucency, persist.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Cornea / abnormalities*
  • Cornea / physiopathology
  • Dark Adaptation
  • Humans
  • Male
  • Miosis / congenital
  • Miosis / genetics*
  • Miosis / physiopathology
  • Pedigree
  • Pupil Disorders