Results 31 to 40 of about 266,209 (210)

A Gene Scan Study of RPE65 in Chinese Patients with Leber Congenital Amaurosis

Chinese Medical Journal, 2017
Background: Leber congenital amaurosis (LCA) is a visual disease which is caused by RPE65 mutations and results in retinal degeneration and severe vision loss in early infancy. According to previous researches, mutations of the RPE65 gene account for 16%
Jing Liu, Juan Bu
doaj   +1 more source

Generation of a human iPSC line, INMi004-A, with a point mutation in CRX associated with autosomal dominant Leber congenital amaurosis

Stem Cell Research, 2019
The human induced pluripotent stem cell (iPSC) line, INMi004-A, was generated using dermal fibroblasts from a 6 year-old patient with autosomal dominant Leber Congenital Amaurosis (LCA) caused by the point mutation c.695delC (p.Pro232Argfs*139) in the ...
Nejla Erkilic, Carla Sanjurjo-Soriano, Gaël Manes, Gregor Dubois, Christian P. Hamel, Isabelle Meunier, Vasiliki Kalatzis   +6 more
doaj   +1 more source

Novel mutation identified in Leber congenital amaurosis - a case report

BMC Ophthalmology, 2020
Background Leber congenital amaurosis (LCA) is the earliest onset and the most severe form of all inherited retinal degenerative disorders, characterized by blindness, or severe visual impairment from birth, and typically exhibits clinical and genetic ...
Shigeru Sato, Takeshi Morimoto, Sayaka Tanaka, Kikuko Hotta, Takashi Fujikado, Motokazu Tsujikawa, Kohji Nishida   +6 more
doaj   +1 more source

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial

, 2014
Background: Choroideremia is an X-linked recessive disease that leads to blindness due to mutations in the CHM gene, which encodes the Rab escort protein 1 (REP1).
During, MJ, Reed Clark, K., Maclaren, Robert, Tolmachova, Tanya, Black, G.C.M., Seabra, Miguel C., Cottriall, Charles L., Groppe, M, Tolmachova, T, Black, Graeme C M, MacLaren, RE, Groppe, Markus, During, M.J., Reed Clark, K, Webster, A.R., Lotery, AJ, Barnard, Alun, Cremers, FPM, Clark, KR, MacLaren, Robert E., Cottriall, C.L., Downes, SM, Webster, AR, Seabra, MC, Cremers, Frans P M, Seymour, Len, Black, GCM, Downes, S.M., Seymour, L, Cottriall, CL, Cremers, F.P.M., Black, G.C., Clark, K., Seabra, M.C., Cremers, F.P., Groppe, M., Barnard, A.R., Barnard, AR, During, Matthew J., Black, GC, Lotery, Andrew J., Downes, Susan M., Seymour, L., Webster, Andrew R., MacLaren, R.E., Downes, Susan, Cremers, FP, Tolmachova, T., Lotery, A.J., Barnard, Alun R.   +49 more
core   +1 more source

Exudative vasculopathy in a child with Leber congenital amaurosis

, 2014
Leber congenital amaurosis is a severe retinal dystrophy that causes blindness or severe visual impairment, usually before the age of 1 year. We present the case of a 13-year-old girl with Leber congenital amaurosis who developed an exudative ...
Patel, Chirag, Gole, Glen A., Moloney, Thomas P.   +2 more
core   +1 more source

The Leber Congenital Amaurosis Protein AIPL1 and EB Proteins Co-Localize at the Photoreceptor Cilium. [PDF]

, 2015
The aim of this study was to investigate the interaction and co-localization of novel interacting proteins with the Leber congenital amaurosis (LCA) associated protein aryl hydrocarbon receptor interacting protein-like 1 (AIPL1)
Juan Hidalgo-de-Quintana, Powner, MB, van der Spuy, J, Hidalgo-De-Quintana, J., Morrison, E. E., Morrison, EE, Schwarz, N., Futter, C. E., Wolfrum, U, Meschede, I. P., Meschede, IP, Futter, CE, Uwe Wolfrum, Cheetham, ME, Schwarz, N, Van Der Spuy, J., Stern-Schneider, G., Ingrid P Meschede, Gabriele Stern-Schneider, Michael B Powner, Wolfrum, U., Hidalgo-de-Quintana, J, Powner, M. B., Ewan E Morrison, Michael E Cheetham, Jacqueline van der Spuy, Nele Schwarz, Clare E Futter, Stern-Schneider, G, Cheetham, M. E.   +29 more
core   +2 more sources

fMRI of retina-originated phosphenes experienced by patients with Leber congenital amaurosis. [PDF]

PLoS ONE, 2014
A phenomenon characterized by the experience of seeing light without any light actually entering the eye is called phosphenes or photopsias. Phosphenes can occur spontaneously or via induction by external stimuli.
Manzar Ashtari, Laura Cyckowski, Alborz Yazdi, Amanda Viands, Kathleen Marshall, István Bókkon, Albert Maguire, Jean Bennett   +7 more
doaj   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis [PDF]

, 2004
Leber congenital amaurosis (LCA), the most early-onset and severe form of all inherited retinal dystrophies, is responsible for congenital blindness. Ten LCA genes have been mapped, and seven of these have been identified. Because some of these genes are
Hamel, Christian, Hanein, Sylvain, Dufier, Jean-Louis, Gerber, Sylvie, Barbet, Fabienne, Kaplan, Josseline, Ducroq, Dominique, Dollfus, Helene, Rozet, Jean-Michel, Munnich, Arnold, Perrault, Isabelle   +10 more
core   +1 more source

Exploring fundus‐controlled mesopic and scotopic perimetry in inherited retinal disease

Acta Ophthalmologica, EarlyView.
Abstract Purpose Microperimetry is increasingly used as an outcome measure in clinical trials for retinal disease. This study compares mesopic and scotopic microperimetry in a heterogeneous cohort of patients with inherited retinal disease to assess their suitability as clinical trial outcome measures and to determine the most appropriate testing ...
Laura J. Taylor, Amandeep S. Josan, Daniel A O Adeyoju, Isabella Farrance, Robert E. MacLaren   +4 more
wiley   +1 more source