[Congenital megalocornea]

J Fr Ophtalmol. 2002 Mar;25(3):312-8.
[Article in French]

Abstract

Congenital megalocornea is a bilateral enlargement of the cornea's diameter that can be associated with trabecula and/or iris dysgenesis. This condition predisposes the patient to glaucoma. The physiopathology is poorly understood and may be related to lens induction during embryological development of the anterior of the eye. X-linked genetic transmission is found in 50% of cases, autosomal transmission in 40%, and sporadic transmission in the remaining 10%. Diagnosis is based on a thorough examination of the child's eye, often with general anesthesia. Different clinical aspects can be observed: simple megalocornea without ocular or systemic anomalies, megalocornea with ocular and/or systemic anomalies as well as multiple malformation syndromes, dermatological diseases, skeletal diseases, and genetic or chromosomic diseases. A systematic general pediatric examination is therefore necessary. Congenital megalocornea must be considered, first of all, as a differential diagnosis of primary congenital glaucoma and all of its etiologies. Treatment of associated ocular diseases, the search for an association with systemic diseases, and follow-up for the rest of the patient's life are indispensable.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Child, Preschool
  • Cornea / abnormalities*
  • Eye Abnormalities / complications*
  • Eye Abnormalities / genetics
  • Eye Diseases, Hereditary / diagnosis*
  • Eye Diseases, Hereditary / genetics
  • Genetic Linkage
  • Glaucoma / congenital*
  • Humans
  • Infant
  • Infant, Newborn
  • Risk Factors
  • Syndrome
  • X Chromosome