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Update on genetics in inherited retinal disease
Author(s) -
LEROY BP
Publication year - 2010
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.1755-3768.2010.2244.x
Subject(s) - achromatopsia , retinal , disease , stargardt disease , retinal disorder , biology , retinitis pigmentosa , genetics , genotyping , bioinformatics , medicine , gene , ophthalmology , genotype , pathology
Purpose To provide an overview of the recent developments in genetics of inherited retinal dystrophies and dysfunctions. Methods A systematic approach, supported by case presentations, will be used to illustrate an overview of new insights into genotypes and phenotypes of generalised dystrophies and dysfunctions of the retina. Results Much progress has been made in recent years in unravelling the molecular mechanisms underlying generalised retinal dystrophies and dysfunctions, with a wide variety of functions attributed to proteins encoded by causative genes. Identification of new genes such as PDE6C in achromatopsia and TRPM1 in autosomal recessive cCSNB provide further insight in retinal function. In addition, proven and confirmed success of gene therapy for Leber congenital amaurosis in man is leading the way for further treatment trials in humans suffering from different inherited retinal diseases. Conclusion Rapid progress is being made in the field of genetic retinal disease, with novel developments both in genotyping and improved detailed phenotyping. In addition, gene therapy is becoming a potentially feasible treatment option for several inherited retinal conditions.