title: Congenital abnormalities of the optic nerve: from gene mutation to clinical expression.
abstract: Optic nerve malformations are common causes of congenital blindness and are recognized with increasing prevalence. The importance of identifying these malformations lies not only in determining the cause and level of visual impairment, but also in looking for associated treatable or life threatening systemic conditions. A number of genetic mutations have been identified in the development of optic disc anomalies, such as ones in PAX2 or PAX6. Recent advances in genetic testing like array comparative genomic hybridization allow the detection of microdeletions that were previously difficult or impossible to identify.
authors.affiliation: Department of Pediatric Ophthalmology and Strabismus and the Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation, 9500 Euclid Ave, i13, Cleveland, OH 44195, USA.
authors.forename: Palak B
authors.initials: PB
authors.lastname: Wall
authors.forename: Elias I
authors.initials: EI
authors.lastname: Traboulsi
mesh_terms: D006801:Humans; D009154:Mutation; D009900:Optic Nerve / Q000002:abnormalities*; D009901:Optic Nerve Diseases / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics*; D051762:PAX2 Transcription Factor / Q000235:genetics; D051761:Paired Box Transcription Factors / Q000235:genetics*
chemical_list: D051762:PAX2 Transcription Factor; D051761:Paired Box Transcription Factors