title: Developmental eye disorders.
abstract: In developed countries, malformations of the eye are among the most common causes of serious visual impairment in newborns. The identification of pathogenic mutations in autosomal and X-linked transcription factors has advanced our understanding of the critical stages in human eye development and has begun to explain some unusual inheritance characteristics of these disorders. The functional characterisation of these genes in model organisms has prompted reinvestigation of affected individuals to identify previously unrecognized but consistent extra-ocular malformations. This dialogue between clinical genetics and basic developmental biology provides a paradigm to enhance our understanding of many critical developmental processes in human embryogenesis.
authors.affiliation: Medical Research Council, Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK.
authors.forename: David R
authors.initials: DR
authors.lastname: Fitzpatrick
authors.forename: Veronica
authors.initials: V
authors.lastname: van Heyningen
mesh_terms: D000818:Animals; D019521:Body Patterning; D005128:Eye Diseases / Q000151:congenital / Q000196:embryology* / Q000235:genetics* / Q000378:metabolism; D005136:Eye Proteins / Q000235:genetics / Q000378:metabolism; D018398:Homeodomain Proteins / Q000235:genetics / Q000378:metabolism; D006801:Humans; D009154:Mutation / Q000235:genetics; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins / Q000235:genetics / Q000378:metabolism
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins