title: [Congenital megalocornea].
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.
authors.affiliation: Service d'Ophtalmologie, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015 Paris, France.
authors.forename: O
authors.initials: O
authors.lastname: Roche
authors.forename: P
authors.initials: P
authors.lastname: Dureau
authors.forename: Y
authors.initials: Y
authors.lastname: Uteza
authors.forename: J L
authors.initials: JL
authors.lastname: Dufier
mesh_terms: D002675:Child, Preschool; D003315:Cornea / Q000002:abnormalities*; D005124:Eye Abnormalities / Q000150:complications* / Q000235:genetics; D015785:Eye Diseases, Hereditary / Q000175:diagnosis* / Q000235:genetics; D008040:Genetic Linkage; D005901:Glaucoma / Q000151:congenital*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D012307:Risk Factors; D013577:Syndrome; D014960:X Chromosome
vernacular_title: La mégalocornée congénitale.