title: Congenital and Genetic Ocular Motility Disorders: Update and Considerations.
abstract: Concepts regarding certain forms of congenital eye movement disorders have recently changed, due in large part to new genetic evidence identifying causative genes and their role in the development of extraocular muscle innervation. This group is now referred to as the Congenital Cranial Dysinnervation Disorders (CCDDs). Careful assessment of phenotypic features that include both ophthalmological and non-ophthalmological features in genetically defined individuals has led to the development of a more robust classification system. Correlating phenotypes with new genetically defined syndromes has improved the ability of the clinician/researcher to better determine a definitive diagnosis in patients with complex ocular motility disorders. Nevertheless, more work is still required.
authors.affiliation: From the IWK Health Centre Eye Care Team, Halifax, Nova Scotia, Canada; From the Faculty of Health Professions, Dalhousie University, Halifax, Nova Scotia, Canada; From the Division of Ophthalmology, Faculty of Health Sciences, University of Stellenbosch, Tygerberg, South Africa. oystreck@iwk.nshealth.ca.
authors.forename: Darren
authors.initials: D
authors.lastname: Oystreck
mesh_terms: D015785:Eye Diseases, Hereditary / Q000175:diagnosis* / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D015835:Ocular Motility Disorders / Q000151:congenital / Q000175:diagnosis / Q000235:genetics; D009801:Oculomotor Muscles / Q000294:innervation*; D010641:Phenotype
keywords: Duane syndrome; congenital cranial dysinnervation disorder; congenital fibrosis of the extraocular muscles; genetics