Retinitis pigmentosa (RP), the group of hereditary conditions involving death of retinal
photoreceptors, represents the most prevalent cause of visual handicap among working …

The human retina carries specialized neurons, the rod and cone photoreceptors, which
absorb and transduce light energy and transmit impulses through the optic nerve to the …

Age-related macular degeneration (AMD) is the leading cause of central vision loss
worldwide. Drusen accumulation is the major pathological hallmark common to both dry and …

Retinitis pigmentosa (RP) represents the most common mendelian degenerative retinopathy
of man, involving death of rod photoreceptors, cone cell degeneration, retinal vessel …

While individually classed as rare diseases, hereditary retinal degenerations (IRDs) are the
major cause of registered visual handicap in the developed world. Given their hereditary …

THE group of retinopathies termed retinitis pigmentosa (RP) greatly contribute to visual
dysfunction in man with a frequency of roughly 1 in 4,000 (refs 1, 2). We mapped the first …

Retinal gene therapy with adeno‐associated viral (AAV) vectors is safe and effective in
humans. However, AAV's limited cargo capacity prevents its application to therapies of …

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 …

For dominantly inherited disorders development of gene therapies, targeting the primary
genetic lesion has been impeded by mutational heterogeneity. An example is rhodopsin …

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