title: [Development and genetic anomalies of the eye].
abstract: The eye is a complex organ whose embryonic origin and developmental dynamics are now better known. The genetic basis of eye development is interesting with respect to both fundamental notions and medical implications. They are reviewed here in the light of the latest anatomical and molecular knowledge. Anomalies of the master control pathways and differentiation cascades are described, with reference to human cases and animal models. New knowledge of the pathophysiology of inherited defects sometimes challenges old classifications, provides new diagnostic tools, and may soon lead to novel treatments.
authors.affiliation: Service de Génétique Médicale, Université de Toulouse, INSERM U563, CPTP, CHU de Toulouse, Hôpital Purpan, TSA 40031, 31059 Toulouse.
authors.forename: Patrick
authors.initials: P
authors.lastname: Calvas
mesh_terms: D000818:Animals; D005123:Eye / Q000196:embryology*; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D011247:Pregnancy