Results 21 to 30 of about 7,465 (249)

Coats-like vasculopathy in RDH12 Leber congenital amaurosis. [PDF]

Eye (Lond)
Ramtohul P, Aziz A, David T.
europepmc   +3 more sources

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis. [PDF]

Front Cell Dev Biol, 2023
Panneman DM, Hitti-Malin RJ, Holtes LK, de Bruijn SE, Reurink J, Boonen EGM, Khan MI, Ali M, Andréasson S, De Baere E, Banfi S, Bauwens M, Ben-Yosef T, Bocquet B, De Bruyne M, de la Cerda B, Coppieters F, Farinelli P, Guignard T, Inglehearn CF, Karali M, Kjellström U, Koenekoop R, de Koning B, Leroy BP, McKibbin M, Meunier I, Nikopoulos K, Nishiguchi KM, Poulter JA, Rivolta C, Rodríguez de la Rúa E, Saunders P, Simonelli F, Tatour Y, Testa F, Thiadens AAHJ, Toomes C, Tracewska AM, Tran HV, Ushida H, Vaclavik V, Verhoeven VJM, van de Vorst M, Gilissen C, Hoischen A, Cremers FPM, Roosing S.   +47 more
europepmc   +3 more sources

Relative preservation of the extramacular retina in LCA5-associated Leber congenital amaurosis. [PDF]

Am J Ophthalmol Case Rep, 2022
Leber Congenital Amaurosis caused by mutations in LCA5 (LCA5-LCA) represents one of the most severe molecular forms of inherited retinal degenerations, even within the LCA disease spectrum.
O'Connor K, O'Neil EC, Aleman TS.
europepmc   +2 more sources

Generation and validation of a Leber Congenital Amaurosis, Type 12 patient-specific iPSC line (LVPEIi006-B) with a splice-site mutation in RD3 and an isogenic mutation-corrected iPSC line (LVPEIi006-B-1)

Stem Cell Research
Leber congenital amaurosis, Type 12 is an early onset, autosomal recessive retinal disease caused by mutations in RD3. We report the generation of a patient-specific iPSC line (LVPEIi006-B), using Sendai viral vector-based reprogramming approach and an ...
Sudipta Mahato, Savitri Maddileti, Trupti Agrawal, Sundaram Acharya, Chitra Kannabiran, Subhadra Jalali, Debojyoti Chakraborty, Indumathi Mariappan   +7 more
openalex   +3 more sources

In vivo base editing rescues cone photoreceptors in a mouse model of early-onset inherited retinal degeneration

Nature Communications, 2022
Leber congenital amaurosis is caused by mutations in RPE65 and leads to retinal degeneration in children. Here, the authors show that in vivo base editing can prolong the survival of cone photoreceptors and rescue their function in a mouse model of the ...
Elliot H. Choi, Susie Suh, Andrzej T. Foik, Henri Leinonen, Gregory A. Newby, Xin D. Gao, Samagya Banskota, Thanh Hoang, Samuel W. Du, Zhiqian Dong, Aditya Raguram, Sajeev Kohli, Seth Blackshaw, David C. Lyon, David R. Liu, Krzysztof Palczewski   +15 more
doaj   +1 more source

Reduced ADP off-rate by the yeast CCT2 double mutation T394P/R510H which causes Leber congenital amaurosis in humans. [PDF]

Commun Biol, 2023
The CCT/TRiC chaperonin is found in the cytosol of all eukaryotic cells and assists protein folding in an ATP-dependent manner. The heterozygous double mutation T400P and R516H in subunit CCT2 is known to cause Leber congenital amaurosis (LCA), a ...
Roy M, Fleisher RC, Alexandrov AI, Horovitz A.   +3 more
europepmc   +2 more sources

CRB1 Gene Mutation Causing Different Phenotypes of Leber Congenital Amaurosis in Siblings

Journal of Ophthalmic & Vision Research, 2019
Purpose: We report a rare case of CRB1gene mutation in two siblings (sisters) affected with the exact same genetic mutation on both CRB1genes resulting in varying phenotypes.
Shaheryar Ahmed Khan, A R Nestel
openalex   +3 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

Compound heterozygous mutations in a mouse model of Leber congenital amaurosis reveal the role of CCT2 in photoreceptor maintenance. [PDF]

Commun Biol
Suga A, Minegishi Y, Yamamoto M, Ueda K, Iwata T.   +4 more
europepmc   +3 more sources