title: Comparison of infantile nystagmus syndrome in achiasmatic zebrafish and humans.
abstract: Infantile nystagmus syndrome (INS; formerly called congenital nystagmus) is an ocular motor disorder characterized by several typical nystagmus waveforms. To date, restrictions inherent to human research and the absence of a handy animal model have impeded efforts to identify the underlying mechanism of INS. Displaying INS-like spontaneous eye oscillations, achiasmatic zebrafish belladonna (bel) mutants may provide new insights into the mystery of INS. In this study, we demonstrate that these spontaneous eye oscillations match the diagnostic waveforms of INS. As a result, zebrafish bel mutants can be used as an animal model for the study of INS. In zebrafish bel mutants, visual pathway abnormalities may contribute to the spontaneous nystagmus via an inverted signal to the pretectal area. We hypothesized that human INS may also be linked to visual pathway abnormalities (possibly underdiagnosed in INS patients) in a similar way.
authors.affiliation: Department of Neurology, Zurich University Hospital, Zurich, Switzerland. ying-yu.huang@usz.ch
authors.forename: Melody Ying-Yu
authors.initials: MY
authors.lastname: Huang
authors.forename: Chieng-Cheng
authors.initials: CC
authors.lastname: Chen
authors.forename: Sabina P
authors.initials: SP
authors.lastname: Huber-Reggi
authors.forename: Stephan C F
authors.initials: SC
authors.lastname: Neuhauss
authors.forename: Dominik
authors.initials: D
authors.lastname: Straumann
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D006801:Humans; D007223:Infant; D060850:LIM-Homeodomain Proteins / Q000235:genetics; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D020417:Nystagmus, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D009897:Optic Chiasm / Q000002:abnormalities; D013045:Species Specificity; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics; D014795:Visual Pathways / Q000002:abnormalities / Q000503:physiopathology; D015027:Zebrafish; D029961:Zebrafish Proteins / Q000235:genetics
chemical_list: D060850:LIM-Homeodomain Proteins; D009419:Nerve Tissue Proteins; D014157:Transcription Factors; D029961:Zebrafish Proteins; C509734:lhx2b protein, zebrafish