Publication trends of Leber congenital amaurosis researches: a bibliometric study during 2002-2022 [PDF]
International Journal of OphthalmologyAIM: To analyze the changes in scientific output relating to Leber congenital amaurosis (LCA) and forecast the study trends in this field. METHODS: All of the publications in the field of LCA from 2002 to 2022 were collected from Web of Science (WOS ...
Xiao-Xu Huang +9 more
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Identification and characterization of NMNAT1 gene mutations in an Iranian patient with Leber congenital amaurosis 9 [PDF]
Clinical Case ReportsKey Clinical Message The discovery of compound heterozygous NMNAT1 mutations (c.245T>C; p.Val82Ala and c.575A>G; p.Asp192Gly) provides a genetic explanation for Leber congenital amaurosis 9 in an Iranian patient.
Mostafa Neissi +6 more
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The Role of TRiC-enhanced Actin Folding in Leber Congenital Amaurosis [PDF]
Journal of Ophthalmic & Vision Research, 2023 Purpose: Mutations in TCP-1 ring complex (TRiC) have been associated with Leber Congenital Amaurosis (LCA). TRiC is involved in protein folding and has 8 essential subunits including CCT5.
Silke Berger +2 more
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AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation [PDF]
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 +11 more
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Relative preservation of the extramacular retina in LCA5-associated Leber congenital amaurosis [PDF]
American Journal of Ophthalmology Case Reports, 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.
Keli O'Connor +2 more
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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 +7 more
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Novel gene variants in Polish patients with Leber congenital amaurosis (LCA) [PDF]
Orphanet Journal of Rare Diseases, 2020 Background Leber congenital amaurosis (LCA) is a rare retinal disease that is the most frequent cause of congenital blindness in children and the most severe form of inherited retinal dystrophies.
Anna Skorczyk-Werner +3 more
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Stem Cell ResearchLeber congenital amaurosis (LCA) is a congenital, early onset, autosomal recessive inherited retinal disease (IRD). This report describes an LCA12 patient-specific iPSC line (LVPEIi006-A), generated by the reprogramming of dermal fibroblasts using ...
Sudipta Mahato +5 more
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Reduced ADP off-rate by the yeast CCT2 double mutation T394P/R510H which causes Leber congenital amaurosis in humans [PDF]
Communications Biology, 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 ...
Mousam Roy +3 more
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Novel mutation identified in Leber congenital amaurosis - a case report [PDF]
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 +6 more
doaj +2 more sources