Results 11 to 20 of about 266,209 (210)

Genetic testing for Leber congenital amaurosis

The EuroBiotech Journal, 2017
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Leber congenital amaurosis (LCA).
Abeshi Andi, Coppola Pamela, Beccari Tommaso, Dundar Munis, Falsini Benedetto, Bertelli Matteo   +5 more
doaj   +2 more sources

Leber Congenital Amaurosis

Güncel Retina Dergisi (Current Retina Journal), 2021
Leber Congenital Amaurosis (LCA) is one of the most severe forms of hereditary retinal dystrophies described approximately 150 years ago and is a cause of vision loss early in childhood. Although LCA is characterized by wandering nystagmus, poor pupillary reflex (amaurotic pupils), and undetectable or severely abnormal ERG responses in infancy, there ...
SEVİK, MEHMET ORKUN, ŞAHİN, ÖZLEM
core   +3 more sources

Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients [PDF]

BioMedical Engineering OnLine, 2012
Background Objective techniques to assess the amelioration of vision in patients with impaired visual function are needed to standardize efficacy assessment in gene therapy trials for ocular diseases.
Melillo Paolo, Pecchia Leandro, Testa Francesco, Rossi Settimio, Bennett Jean, Simonelli Francesca   +5 more
doaj   +2 more sources

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

Molecular Therapy: Nucleic Acids, 2012
Leber congenital amaurosis (LCA) is a severe hereditary retinal dystrophy responsible for congenital or early-onset blindness. The most common disease-causing mutation (>10%) is located deep in intron 26 of the CEP290 gene (c.2991+1655A>G).
Xavier Gerard, Isabelle Perrault, Sylvain Hanein, Eduardo Silva, Karine Bigot, Sabine Defoort-Delhemmes, Marlèene Rio, Arnold Munnich, Daniel Scherman, Josseline Kaplan, Antoine Kichler, Jean-Michel Rozet   +11 more
doaj   +2 more sources

Generation of a human induced pluripotent stem cell line from a patient with Leber congenital amaurosis [PDF]

Stem Cell Research, 2020
Leber congenital amaurosis (LCA) is an inherited retinal dystrophy that is characterized by severe visual impairment in early infancy. We generated a human induced pluripotent stem cell (hiPSC) line, DKHi090-A, from peripheral blood mononuclear cells ...
Hyeyeon Park, Jinu Han, Youngsun Lee, Sungwook Kwak, Soo Kyung Koo   +4 more
doaj   +2 more sources

Molecular genetics of Leber congenital amaurosis [PDF]

Human Molecular Genetics, 2002
Leber congenital amaurosis (LCA) is the most common inherited cause of blindness in childhood and is characterised by a severe retinal dystrophy before the age of one year. Six genes have been identified that together account for approximately half of all LCA patients.
Cremers, F.P.M., Hurk, J.A.J.M. van den, Hollander, A.I. den   +2 more
openaire   +5 more sources

Toward the Treatment of Inherited Diseases of the Retina Using CRISPR-Based Gene Editing

Frontiers in Medicine, 2021
Inherited retinal dystrophies [IRDs] are a common cause of severe vision loss resulting from pathogenic genetic variants. The eye is an attractive target organ for testing clinical translational approaches in inherited diseases.
Jennifer Hernández-Juárez, Genaro Rodríguez-Uribe, Genaro Rodríguez-Uribe, Shyamanga Borooah   +3 more
doaj   +1 more source

Genetics and therapy for pediatric eye diseases

EBioMedicine, 2021
Ocular morphogenesis in vertebrates is a highly organized process, orchestrated largely by intrinsic genetic programs that exhibit stringent spatiotemporal control.
Holly.Y. Chen, Ordan J. Lehmann, Anand Swaroop   +2 more
doaj   +1 more source

Generation of a human induced pluripotent stem cell line (PUMCHi018-A) from an early-onset severe retinal dystrophy patient with RDH12 mutations

Stem Cell Research, 2022
RDH12 mutations have been identified in patients diagnosed with severe early-onset retinal dystrophy, including Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD).
Xuan Zou, Shijing Wu, Tian Zhu, Zixi Sun, Xing Wei, Wuyi Li, Ruifang Sui   +6 more
doaj   +1 more source

Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis

Human Genome Variation, 2021
Leber congenital amaurosis (LCA) is a severe autosomal recessive retinal degenerative disease. The current study describes exome sequencing results for two unrelated Indian LCA patients carrying novel nonsense p.(Glu636*) and frameshift p.(Pro2281Leufs ...
Natarajan N. Srikrupa, Sarangapani Sripriya, Suriyanarayanan Pavithra, Parveen Sen, Ravi Gupta, Sinnakaruppan Mathavan   +5 more
doaj   +1 more source