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Genetically determined causes of eye movement disorders
Author(s) -
LEROY B
Publication year - 2013
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2013.1462.x
Subject(s) - nystagmus , phenotype , eye movement , genotype , biology , genetics , genetic heterogeneity , presentation (obstetrics) , disease , neuroscience , medicine , audiology , gene , pathology , radiology
To describe the phenotypes and genotypes of genetically determined disease leading to nystagmus. A case presentation format will be used to illustrate different genetically determined conditions leading to nystagmus. Both clinical and electrophysiological phenotypes as well as genotypes will be discussed. Phenotypes and genotypes of genetically determined nystagmus are very different. An important distinction to be made is the one between stationary and progressive diseases. Indeed, such distinction is important as the visual outcome varies considerably between those different conditions. Very diverse conditions may give rise to genetically determined nystagmus. Genetics and visual electrophysiology allows an important distinction between progressive and stationary conditions