CongenitalCongenital corneal anomalies represent a diverse group of ocular disorders that manifest during intrauterine development or shortly after birth. Disorders of the anterior segmentAnterior segment of the eyeEye encompass a variety of clinical presentations including aniridiaAniridia, Axenfeld and Rieger anomalies, primary congenitalCongenital glaucoma, Peters anomaly, as well as syndromal associations. These conditions have a significant impact on vision due to disruption of the visual axis, and also secondary glaucoma which occurs in over 50% of patients. Ocular anterior segmentAnterior segment disorders occur due to a complex interplay of developmental, embryological and genetic factors, and often have phenotypic overlaps and genetic heterogeneity. The reader will be presented selected causes of congenitalCongenital or early emerging corneal anomalies and opacifications. There will be a categorization of the causes of corneal opacificationsCorneal opacification in infancy modified and slightly extended according to the classification of Ken Nischal et al. In addition, the aspect of Gestalt of the corneaCornea will be described (NGP—Next Generation Phenotyping).

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Congenital Corneal Abnormalities

  • Barbara Käsmann-Kellner,
  • Berthold Seitz

摘要

CongenitalCongenital corneal anomalies represent a diverse group of ocular disorders that manifest during intrauterine development or shortly after birth. Disorders of the anterior segmentAnterior segment of the eyeEye encompass a variety of clinical presentations including aniridiaAniridia, Axenfeld and Rieger anomalies, primary congenitalCongenital glaucoma, Peters anomaly, as well as syndromal associations. These conditions have a significant impact on vision due to disruption of the visual axis, and also secondary glaucoma which occurs in over 50% of patients. Ocular anterior segmentAnterior segment disorders occur due to a complex interplay of developmental, embryological and genetic factors, and often have phenotypic overlaps and genetic heterogeneity. The reader will be presented selected causes of congenitalCongenital or early emerging corneal anomalies and opacifications. There will be a categorization of the causes of corneal opacificationsCorneal opacification in infancy modified and slightly extended according to the classification of Ken Nischal et al. In addition, the aspect of Gestalt of the corneaCornea will be described (NGP—Next Generation Phenotyping).