Blind dogs that can see: pharmacological treatment of Leber congenital amaurosis caused by a defective visual cycle.
نویسنده
چکیده
P ETERSEN-JONES AND COLLEAGUES PERformed an important proof-of-principle study titled “Improvement of Visual Performance With Intravitreal Administration of 9-cisRetinal in Rpe65-Mutant Dogs,” published in this issue of the Archives. As a component of comprehensive preclinical studies, its primary goal was to determine the efficacy of 9-cis-retinal in restoring visual function assessed by both electroretinography (ERG) and functional vision testing in Rpe65-mutant dogs. Because
منابع مشابه
CRB1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum
Background: Leber congenital amaurosis (LCA) is a rare inherited retinal disease causing severe visual impairment in infancy. It has been reported that 9-15% of LCA cases have mutations in CRB1 gene. The complex of CRB1 protein with other associated proteins affects the determination of cell polarity, orientation, and morphogenesis of photoreceptors. Here, we report three novel pathogenic varia...
متن کاملPharmacological and rAAV Gene Therapy Rescue of Visual Functions in a Blind Mouse Model of Leber Congenital Amaurosis
BACKGROUND Leber congenital amaurosis (LCA), a heterogeneous early-onset retinal dystrophy, accounts for approximately 15% of inherited congenital blindness. One cause of LCA is loss of the enzyme lecithin:retinol acyl transferase (LRAT), which is required for regeneration of the visual photopigment in the retina. METHODS AND FINDINGS An animal model of LCA, the Lrat-/- mouse, recapitulates c...
متن کاملVisual Psychophysics and Physiological Optics Nature of the Visual Loss in Observers With Leber’s Congenital Amaurosis Caused by Specific Mutations in RPE65
Citation: Ripamonti C, Henning GB, Ali RR, et al. Nature of the visual loss in observers with Leber’s congenital amaurosis caused by specific mutations in RPE65. Invest Ophthalmol Vis Sci. 2014;55:6817–6828. DOI: 10.1167/iovs.14-14923 PURPOSE. To characterize visual losses associated with genetic mutations in the RPE65 gene that cause defects in the RPE-specific isomerase, RPE65. RPE65 is an im...
متن کاملRDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.
PURPOSE Human blindness caused by mutation of visual cycle genes has been discussed as potentially treatable by retinoid replacement either through gene transfer or pharmacological bypass. Mutations in the RDH12 gene disrupt the visual cycle in vitro, but little is known of the in vivo effects of mutant RDH12, other than the association with severe early-onset autosomal recessive retinal diseas...
متن کاملRapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness.
Mutations in the retinal pigment epithelium gene encoding RPE65 are a cause of the incurable early-onset recessive human retinal degenerations known as Leber congenital amaurosis. Rpe65-deficient mice, a model of Leber congenital amaurosis, have no rod photopigment and severely impaired rod physiology. We analyzed retinoid flow in this model and then intervened by using oral 9-cis-retinal, atte...
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عنوان ژورنال:
- Archives of ophthalmology
دوره 128 11 شماره
صفحات -
تاریخ انتشار 2010