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Inherited retinal disease
Author(s) -
LEROY BP
Publication year - 2012
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.1755-3768.2012.2884.x
Subject(s) - retinal , disease , phenotype , clinical phenotype , presentation (obstetrics) , neuroscience , genetic heterogeneity , retinal degeneration , medicine , ophthalmology , bioinformatics , biology , pathology , genetics , surgery , gene
Purpose To illustrate several inherited retinal dystrophies and dysfunctions and their management in the ophthalmic genetic clinic. Methods A case presentation format will be used to illustrate different genetically determined retinal dystrophies and dysfunctions. Case descriptions will include clinical and electrophysiological phenotypes as well as genotypes. Results Phenotypes and genotypes of genetically determined retinal diseases are very different. An important distinction to be made is the one between stationary and progressive diseases, as the visual outcome differs considerably between different conditions. Conclusion Inherited retinal diseases are very diverse. Taking a thorough history in combination with an extensive clinical examination and psychophysical and electrophysiological tests most often allows a to make a specific diagnosis. It is important to distinguish between progressive and stationary conditions.