title: Ocular manifestations of genetic and developmental diseases.
abstract: Although ophthalmic involvement in developmental and genetic abnormalities has been recognized for centuries, it is only recently, due to new discoveries in molecular biology, that our classification and pathophysiology of congenital eye diseases have been advanced. In the next few years these advances will increasingly influence aspects of diagnosis classification, and therapy in ophthalmology. Tests for acquired and inherited diseases in opthalmology are being revolutionized by biotechnical innovations. The molecular genetics of ocular diseases is currently undergoing changes in classification due to intense investigations using advanced biotechnology. The potential for new treatment modalities, such as gene therapy, for molecular eye diseases, once thought to be pure fiction, is now a reality. This paper will outline recent changes in classification, organization, and general knowledge regarding inherited eye diseases.
authors.affiliation: Division of Ophthalmology, Children's Hospital of Philadelphia, PA 19104, USA.
authors.forename: R W
authors.initials: RW
authors.lastname: Hertle
mesh_terms: D000818:Animals; D005124:Eye Abnormalities / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D015785:Eye Diseases, Hereditary / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D006801:Humans; D013577:Syndrome