Results 41 to 50 of about 12,927 (274)

Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials

British Journal of Ophthalmology, 2021
Leber congenital amaurosis (LCA) is a severe congenital/early-onset retinal dystrophy. Given its monogenic nature and the immunological and anatomical privileges of the eye, LCA has been particularly targeted by cutting-edge research.
Malena Daich Varela, T. A. Cabral de Guimarães, M. Georgiou, M. Michaelides   +3 more
semanticscholar   +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

Restoring Retinal Function in a Mouse Model of Hereditary Blindness [PDF]

, 2005
Moore discusses a new study showing rescue of photoreceptor function using gene and drug therapies in a mouse model of Leber congenital ...
Moore, Tony
core   +4 more sources

Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65

Stem Cell Research, 2022
Leber congenital amaurosis (LCA) can be caused by mutations in more than 20 different genes. One of these, RPE65, encodes a protein essential for the visual cycle that is expressed in retinal pigment epithelium cells.
Irene Vázquez-Domínguez, Michael Kwint, Hester Y Kroes, Silvia Albert, Luke O'Gorman, Christian Gilissen, Frans P.M. Cremers, Rob W.J. Collin, Susanne Roosing, Alejandro Garanto   +9 more
doaj   +1 more source

Therapeutic adenine base editing corrects nonsense mutation and improves visual function in a mouse model of Leber congenital amaurosis

bioRxiv, 2021
Leber congenital amaurosis (LCA) is an inherited retinal degeneration that causes severe visual dysfunction in children and adolescents. In patients with LCA, pathogenic variants are evident in specific genes, such as RPE65, which are related to the ...
D. Jo, Hyeon-Ki Jang, Chang Sik Cho, Jun Hee Han, Gahee Ryu, Youngri Jung, Sangsu Bae, J. H. Kim   +7 more
semanticscholar   +1 more source

Clinical characterization of 66 patients with congenital retinal disease due to the deep-intronic c.2991+1655A>G mutation in CEP290 [PDF]

, 2018
Purpose: To describe the phenotypic spectrum of retinal disease caused by the c.2991+1655A>G mutation in CEP290 and to compare disease severity between homozygous and compound heterozygous patients.
Bertelsen, Mette, Collin, Rob W. J., Coppieters, Frauke, De Zaeytijd, Julie, Hoyng, Carel B, Klaver, Caroline CW, Kroes, Hester Y, Leroy, Bart, Lorenz, Birgit, Pott, Jan-Willem R, Preising, Markus, Thiadens, Alberta AHJ, Valkenburg, Dyon, Van Cauwenbergh, Caroline, van den Born, L. Ingeborgh, van Genderen, Mies M, van Schooneveld, Mary J   +16 more
core   +3 more sources

Leber Congenital Amaurosis Due to GUCY2D Mutations: Longitudinal Analysis of Retinal Structure and Visual Function

International Journal of Molecular Sciences, 2021
Gene augmentation therapy is being planned for GUCY2D-associated Leber congenital amaurosis (LCA). To increase our understanding of the natural history of GUCY2D-LCA, patients were evaluated twice with an interval of 4 to 7 years between visits using ...
S. Jacobson, A. Cideciyan, A. Sumaroka, A. J. Roman, Vivian Wu, M. Świder, Rebecca Sheplock, A. Krishnan, Alexandra V. Garafalo   +8 more
semanticscholar   +1 more source

Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus [PDF]

, 2003
BACKGROUND: Leber’s congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist.
Inglehearn, C.F., Jafri, H., McKibbin, M.A., Mohamed, M.D., Raashed, Y., Topping, N.C   +5 more
core   +1 more source

Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India

Eye and Vision, 2021
Background Leber congenital amaurosis (LCA), primarily characterized by retinal degeneration is the most severe form of inherited retinal dystrophy (IRD) responsible for congenital blindness.
Sriee Viswarubhiny, Rupa Anjanamurthy, A. Vanniarajan, D. Bharanidharan, Vijayalakshmi Perumalsamy, Periasamy Sundaresan   +5 more
semanticscholar   +1 more source

Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish [PDF]

, 2017
The authors would like to thank the Royal Society of London, the National Eye Research Centre, the Visual Research Trust, Fight for Sight, the W.H. Ross Foundation, the Rosetrees Trust, and the Glasgow Children’s Hospital Charity for supporting this work.
A Eblimit, A Hameed, AF Wright, AI Hollander den, B Kennedy, BW Draper, C Insinna, C Turney, CA Murga-Zamalloa, CM Louie, CS Mellersh, D Deretic, D Mustafi, DH Hong, EM Morrow, F Liu, G Stearns, G Ying, H Patil, H Wang, HH Arts, J Kim, J Wang, J Won, JC Booij, JE Westfall, JM Corless, JP Boylan, KL Cerveny, KL Coene, L Sang, MM Humphries, MV Nachury, O Rinner, OL Moritz, P Castagnet, PD Alfinito, PH Balm, R Bachmann-Gagescu, R Roepman, R Roepman, S Gerber, SC Neuhauss, SE Brockerhoff, SR Patnaik, TA Mavlyutov, TP Dryja, V Traverso, VS Lopes, X Shu, X Shu, X Shu., Y Wada., Y Zhao, YV Makhankov   +54 more
core   +4 more sources