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Doctor, my baby doesn't fix and follow
Author(s) -
LEROY BP
Publication year - 2008
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.1755-3768.2008.5452.x
Subject(s) - phenotype , disease , genotype , presentation (obstetrics) , biology , genetics , neuroscience , psychology , medicine , pathology , surgery , gene
Purpose To describe the phenotypes and genotypes of genetically determined disease leading to either abnormalities of, or complete absence of visual development in the first few years of life. Methods A case presentation format will be used to illustrate different genetically determined conditions leading to delayed or absent visual development. Both clinical and electrophysiological phenotypes as well as genotypes will be discussed. Results Phenotypes and genotypes of genetically determined diseases leading to delayed or absent visual development 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. Conclusion Very diverse conditions may give rise to genetically determined abnormal visual development. Genetics and visual electrophysiology allows an important distinction between progressive and stationary conditions.