Current perspectives in Leber congenital amaurosis type 8 mouse modeling
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DOI: 10.1002/dvdy.462
Abstract: Mutations in the CRB1 (Crumbs homolog 1) cause rare retinal diseases like retinitis pigmentosa type 12 (RP12) and Leber congenital amaurosis type 8 (LCA8). RP12 results in progressively worsening peripheral vision, whereas LCA8 causes severe… read more here.
Keywords: leber congenital; amaurosis type; type; congenital amaurosis ... See more keywords
Leber Congenital Amaurosis.
Sign Up to like & getrecommendations! Published in 2018 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-3-319-95046-4_26
Abstract: Leber congenital amaurosis (LCA) is a part of the spectrum of early-onset retinal dystrophy (EORD). It usually presents in the first few years of life, most often before the age of 1 year. The prevalence… read more here.
Keywords: leber congenital; biology; congenital amaurosis;
Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies
Sign Up to like & getrecommendations! Published in 2018 at "Ophthalmology"
DOI: 10.1016/j.ophtha.2017.12.013
Abstract: Purpose To investigate and describe in detail the demographics, functional and anatomic characteristics, and clinical course of Leber congenital amaurosis (LCA) associated with mutations in the CEP290 gene (LCA-CEP290) in a large cohort of adults… read more here.
Keywords: mutations cep290; clinical phenotype; leber congenital; congenital amaurosis ... See more keywords
Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1.
Sign Up to like & getrecommendations! Published in 2018 at "Stem cell research"
DOI: 10.1016/j.scr.2018.10.012
Abstract: The human induced pluripotent stem cell (hiPSC) line, derived from dermal fibroblasts from Leber congenital amaurosis patient with homozygous mutation c.265 T > C, p.Cys89Arg in aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) was generated by Sendai virus reprogramming.… read more here.
Keywords: aipl1; line; congenital amaurosis; leber congenital ... See more keywords
Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect
Sign Up to like & getrecommendations! Published in 2018 at "Nature Medicine"
DOI: 10.1038/s41591-018-0295-0
Abstract: Photoreceptor ciliopathies constitute the most common molecular mechanism of the childhood blindness Leber congenital amaurosis. Ten patients with Leber congenital amaurosis carrying the c.2991+1655A>G allele in the ciliopathy gene centrosomal protein 290 (CEP290) were treated… read more here.
Keywords: leber congenital; antisense oligonucleotide; photoreceptor; congenital amaurosis ... See more keywords
Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10
Sign Up to like & getrecommendations! Published in 2019 at "Nature Medicine"
DOI: 10.1038/s41591-018-0327-9
Abstract: Leber congenital amaurosis type 10 is a severe retinal dystrophy caused by mutations in the CEP290 gene1,2. We developed EDIT-101, a candidate genome-editing therapeutic, to remove the aberrant splice donor created by the IVS26 mutation… read more here.
Keywords: gene editing; amaurosis type; congenital amaurosis; gene ... See more keywords
Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee
Sign Up to like & getrecommendations! Published in 2017 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2016.1275021
Abstract: ABSTRACT This article is dedicated to Irene Hussels Maumenee, Professor of Human Genetics and Ophthalmology, Johns Hopkins’ Wilmer Eye Institute, Ocular Genetics Fellowship director in 1994–1995. Leber congenital amaurosis (LCA) has almost come full circle,… read more here.
Keywords: maumenee; genetics; congenital amaurosis; leber congenital ... See more keywords
Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China
Sign Up to like & getrecommendations! Published in 2021 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2021.1904417
Abstract: ABSTRACT Purpose: Leber congenital amaurosis (LCA) is one of the earliest inherited retinal dystrophies (IRD) that leads to blindness. To date, there have been 25 LCA-associated genes reported in China as well as other countries.… read more here.
Keywords: genetics; molecular genetics; congenital amaurosis; population ... See more keywords
Fleck-like lesions in CEP290-associated leber congenital amaurosis: a case series
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2147960
Abstract: ABSTRACT Purpose To provide a detailed ophthalmic phenotype of a small cohort of patients with Leber Congenital Amaurosis (LCA) caused by mutations in CEP290 (CEP290-LCA) with a focus on elucidating the origin of yellow-white lesions… read more here.
Keywords: cep290 lca; lesions cep290; leber congenital; like lesions ... See more keywords
Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis
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DOI: 10.1089/hum.2017.049
Abstract: Mutations in the cilia-centrosomal protein CEP290 are frequently observed in autosomal recessive childhood blindness disorder Leber congenital amaurosis (LCA). No treatment or cure currently exists for this disorder. The Cep290rd16 (retinal degeneration 16) mouse (a… read more here.
Keywords: degeneration; congenital amaurosis; gene; leber congenital ... See more keywords
Loss of CRB2 in Müller glial cells modifies a CRB1‐associated retinitis pigmentosa phenotype into a Leber congenital amaurosis phenotype
Sign Up to like & getrecommendations! Published in 2019 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddy337
Abstract: Abstract Variations in the human Crumbs homolog‐1 (CRB1) gene lead to an array of retinal dystrophies including early onset of retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) in children. To investigate the physiological roles… read more here.
Keywords: phenotype; photoreceptor; retinitis pigmentosa; crb2 ... See more keywords