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Comparison of infantile nystagmus syndrome in achiasmatic zebrafish and humans.


Huang, M Y; Chen, C C; Huber-Reggi, S P; Neuhauss, S C F; Straumann, D (2011). Comparison of infantile nystagmus syndrome in achiasmatic zebrafish and humans. Annals of the New York Academy of Sciences, 1233:285-91.

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.

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.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Clinic for Neurology
04 Faculty of Medicine > Neuroscience Center Zurich
04 Faculty of Medicine > Center for Integrative Human Physiology
07 Faculty of Science > Institute of Molecular Life Sciences
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Date:2011
Deposited On:12 Jan 2012 15:22
Last Modified:05 Apr 2016 15:05
Publisher:Wiley-Blackwell
ISSN:0077-8923
Publisher DOI:10.1111/j.1749-6632.2011.06150.x
PubMed ID:21951006
Permanent URL: http://doi.org/10.5167/uzh-50902

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