Open AccessRetinal dystrophies & dysfunctions
Author(s) -
LEROY BP
Publication year - 2007
Publication title -
acta ophthalmologica scandinavica
Language(s) - English
Resource type - Journals
eISSN - 1600-0420
pISSN - 1395-3907
DOI - 10.1111/j.1600-0420.2007.01063_2948.x
Subject(s) - medicine , retinal , disease , retinitis pigmentosa , retina , retinal degeneration , bardet–biedl syndrome , presentation (obstetrics) , retinal disorder , bioinformatics , phenotype , neuroscience , ophthalmology , gene , genetics , pathology , biology , surgery
Purpose: To provide an overview of the current status of knowledge in inherited retinal dystrophies and dysfunctions. Methods: A case presentation format will be used to illustrate an overview of current insights into genotypes and phenotypes of generalised dystrophies and dysfunctions of the retina. Results: Much progress has been made in unravelling the molecular mysteries underlying generalised retinal dystrophies and dysfunctions, with a wide variety of functions attributed to proteins encoded by causative genes. Conclusions: Rapid progress is being made in the field of generalised genetic retinal disease, with the first gene therapy trial for Leber congenital amaurosis currently underway.