title: [Genetic diseases of the eye].
abstract: The eye has always provided a diagnostic window for hereditary and acquired systemic diseases. Of the more than 6,000 known hereditary diseases, many are associated with changes of the visual system. Some are isolated genetic diseases of the eye, others are associated with additional ocular or systemic disorders (syndromes). In recent years, the recognition of genetic diseases as a leading cause of severe visual impairment in adults and in children has led to efforts to determine the underlying defects as well as to develop diagnostic and therapeutic molecular genetic tools. Also, education of ophthalmologists about these diseases will foster the prevention of and therapeutic approaches for genetic blindness. In this article, current knowledge on the clinical manifestations, aetiology and management of genetic diseases of the eye has been summarised.
authors.affiliation: Universitäts-Augenklinik Tübingen, Tübingen. dorothea.besch@med.uni-tuebingen.de
authors.forename: D
authors.initials: D
authors.lastname: Besch
authors.forename: G
authors.initials: G
authors.lastname: Rudolph
mesh_terms: D015785:Eye Diseases, Hereditary / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D005136:Eye Proteins / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D017410:Practice Guidelines as Topic; D010818:Practice Patterns, Physicians'; D014786:Vision Disorders / Q000175:diagnosis / Q000209:etiology / Q000235:genetics / Q000628:therapy
chemical_list: D005136:Eye Proteins