نتایج جستجو برای: lebers congenital amaurosis
تعداد نتایج: 120868 فیلتر نتایج به سال:
Three children who presented in infancy with a severe visual defect and absent or barely recordable electroretinograms, with relatively well preserved visually evoked cortical potentials, were subsequently found to have vertical and horizontal saccade palsies with head thrusts but relatively good visual acuity. These children, who were clearly different from other infants with congenital retina...
Mutations in the AIPL1 (aryl hydrocarbon receptor interacting protein-like 1) cause the blinding disease Leber's congenital amaurosis. AIPL1 is a homologue of the AIP. AIP functions as part of a chaperone heterocomplex to facilitate signalling by the AhR and plays an important role in regulating the nuclear translocation of the receptor. We review the evidence for the role of AIP in protein tra...
Gene therapy represents a promising therapeutic option for many inherited and acquired retinal diseases. Recombinant adeno-associated viral vectors (AAV) are the most efficient tools to transfer genes in vivo to the retina. The recent identification of dozens of novel AAV serotypes enormously expands on the versatility of AAV as vector system for in vivo somatic gene transfer. The results from ...
Protein-protein interaction analyses have uncovered a ciliary and basal body protein network that, when disrupted, can result in nephronophthisis (NPHP), Leber congenital amaurosis, Senior-Løken syndrome (SLSN) or Joubert syndrome (JBTS)1–6. However, details of the molecular mechanisms underlying these disorders remain poorly understood. RPGRIP1-like protein (RPGRIP1L) is a homolog of RPGRIP1 (...
Inherited retinal degenerations, including retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), affect 1 in 4000 individuals in the general population. A majority of the genes which are mutated in these conditions are expressed in either photoreceptors or the retinal pigment epithelium (RPE). There is considerable variation in the clinical severity of these conditions; the most sever...
Several groups have reported the results of clinical trials of gene augmentation therapy for Leber congenital amaurosis (LCA) because of mutations in the RPE65 gene. These studies have used subretinal injection of adeno-associated virus (AAV) vectors to deliver the human RPE65 cDNA to the retinal pigment epithelial (RPE) cells of the treated eyes. In all of the studies reported to date, this ap...
Abstract Background Leber congenital amaurosis (LCA), the severe form of inherited retinal degenerative disorder, is a prevalent disorder in first year life. Recently, genetic studies discovered that different gene mutations are responsible for LCA clinical manifestations. Case presentation In this study, we applied whole exome sequencing (WES) to identify probable defects an Iranian girl with ...
This is a significant time moment in the field of gene therapy in humans. Recently, results from a phase III clinical trial were published, demonstrating the first gene therapy success for a genetic disease. A clinical trial was carried out in patients suffering a hereditary blindness disease named Leber congenital amaurosis, caused by mutations in the RPE65 gene. Participating subjects receive...
Two female cousins were found to be affected with severe retinal dystrophy characterised by visual impairment from birth and profound photophobia in the absence of night blindness. Minimal fundus changes with a small foveal atrophy in the older cousin and slight macular pigment epithelial changes suggestive of early bull's eye appearance in the younger were detected, indicative of a cone-rod ty...
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