RNA interference (RNAi) has become the method of choice to suppress gene expression in
vitro. It is also emerging as a powerful tool for in vivo research with over 90 studies …

Bestrophin-1 is an integral membrane protein, encoded by the BEST1 gene, which is
located in the basolateral membrane of the retinal pigment epithelium. The bestrophin-1 …

Inherited retinal degenerations are caused by mutations in> 250 genes that affect
photoreceptor cells or the retinal pigment epithelium and result in vision loss. For autosomal …

Inherited retinal dystrophies (IRDs) are a group of clinically and genetically heterogeneous
degenerative disorders. To date, mutations have been associated with IRDs in over 270 …

Background: Gene therapy cannot be yet considered a far perspective, but a tangible
therapeutic option in the field of retinal diseases. Although still confined in experimental …

Rhodopsin-mediated autosomal dominant retinitis pigmentosa (RHO-adRP) is a hereditary
degenerative disorder in which mutations in the gene encoding RHO, the light-sensitive G …

RNA interference (RNAi) can be used to inhibit the expression of specific genes in vitro and
in vivo, thereby providing an extremely useful tool for investigating gene function. Progress …

Purpose: To preserve photoreceptor cell structure and function in a rodent model of retinitis
pigmentosa with P23H rhodopsin by selective inhibition of the mutant rhodopsin allele using …

Mutational heterogeneity represents a significant barrier to development of therapies for
many dominantly inherited diseases. For example,> 100 mutations in the rhodopsin gene …

Linkage testing using Affymetrix 6.0 SNP Arrays mapped the disease locus in TCD-G, an
Irish family with autosomal dominant retinitis pigmentosa (adRP), to an 8.8 Mb region on …