Clinical perspective: treating RPE65-associated retinal dystrophy
AM Maguire, J Bennett, EM Aleman, BP Leroy… - Molecular Therapy, 2021 - cell.com
Until recently, there was no approved treatment for a retinal degenerative disease.
Subretinal injection of a recombinant adeno-associated virus (AAV) delivering the normal …
Subretinal injection of a recombinant adeno-associated virus (AAV) delivering the normal …
[HTML][HTML] Progress in treating inherited retinal diseases: early subretinal gene therapy clinical trials and candidates for future initiatives
AV Garafalo, AV Cideciyan, E Héon, R Sheplock… - Progress in retinal and …, 2020 - Elsevier
Due to improved phenotyping and genetic characterization, the field of 'incurable'and
'blinding'inherited retinal diseases (IRDs) has moved substantially forward. Decades of …
'blinding'inherited retinal diseases (IRDs) has moved substantially forward. Decades of …
Retinitis pigmentosa
DT Hartong, EL Berson, TP Dryja - The Lancet, 2006 - thelancet.com
Hereditary degenerations of the human retina are genetically heterogeneous, with well over
100 genes implicated so far. This Seminar focuses on the subset of diseases called retinitis …
100 genes implicated so far. This Seminar focuses on the subset of diseases called retinitis …
The retinal pigment epithelium in visual function
O Strauss - Physiological reviews, 2005 - journals.physiology.org
Located between vessels of the choriocapillaris and light-sensitive outer segments of the
photoreceptors, the retinal pigment epithelium (RPE) closely interacts with photoreceptors in …
photoreceptors, the retinal pigment epithelium (RPE) closely interacts with photoreceptors in …
Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement
AV Cideciyan, SG Jacobson… - Proceedings of the …, 2013 - National Acad Sciences
Leber congenital amaurosis (LCA) associated with retinal pigment epithelium-specific
protein 65 kDa (RPE65) mutations is a severe hereditary blindness resulting from both …
protein 65 kDa (RPE65) mutations is a severe hereditary blindness resulting from both …
Retinitis pigmentosa
C Hamel - Orphanet journal of rare diseases, 2006 - Springer
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of
photoreceptors and characterized by retinal pigment deposits visible on fundus examination …
photoreceptors and characterized by retinal pigment deposits visible on fundus examination …
Chemistry of the retinoid (visual) cycle
As succinctly summarized by Wolf, 1 lack of vitamin A (all-trans-retinol) was recognized by
ancient Egyptians as causing a visual deficiency involving the retina and cornea that could …
ancient Egyptians as causing a visual deficiency involving the retina and cornea that could …
Emerging therapies for inherited retinal degeneration
HPN Scholl, RW Strauss, MS Singh… - Science translational …, 2016 - science.org
Inherited retinal degenerative diseases, a genetically and phenotypically heterogeneous
group of disorders, affect the function of photoreceptor cells and are among the leading …
group of disorders, affect the function of photoreceptor cells and are among the leading …
Biology and therapy of inherited retinal degenerative disease: insights from mouse models
S Veleri, CH Lazar, B Chang… - Disease models & …, 2015 - journals.biologists.com
Retinal neurodegeneration associated with the dysfunction or death of photoreceptors is a
major cause of incurable vision loss. Tremendous progress has been made over the last two …
major cause of incurable vision loss. Tremendous progress has been made over the last two …
Gene therapy restores vision in a canine model of childhood blindness
GM Acland, GD Aguirre, J Ray, Q Zhang, TS Aleman… - Nature …, 2001 - nature.com
The relationship between the neurosensory photoreceptors and the adjacent retinal pigment
epithelium (RPE) controls not only normal retinal function, but also the pathogenesis of …
epithelium (RPE) controls not only normal retinal function, but also the pathogenesis of …