Results 11 to 20 of about 12,927 (274)

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, Achim Richard Nestel   +1 more
doaj   +4 more sources

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, Peter D. Currie, Joachim Berger   +2 more
doaj   +2 more sources

An Update on Gene Therapy for Inherited Retinal Dystrophy: Experience in Leber Congenital Amaurosis Clinical Trials

International Journal of Molecular Sciences, 2021
Inherited retinal dystrophies (IRDs) are a group of rare eye diseases caused by gene mutations that result in the degradation of cone and rod photoreceptors or the retinal pigment epithelium.
Ting-Yi Lin, Yun-Chia Chang, Henkie I Lai   +2 more
exaly   +2 more sources

LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS-SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review. [PDF]

Retina, 2021
Supplemental Digital Content is Available in the Text. In this article, we review the clinical characteristics of Leber congenital amaurosis due to CEP290 mutations (LCA10) and its impact on patients and society. We discuss the challenges associated with
Leroy BP, Birch DG, Duncan JL, Lam BL, Koenekoop RK, Porto FBO, Russell SR, Girach A.   +7 more
europepmc   +2 more sources

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, Erin C. O'Neil, Tomas S. Aleman   +2 more
doaj   +2 more sources

Generation of Leber congenital amaurosis, type 12 patient-specific induced pluripotent stem cell line (LVPEIi006-A), harboring a homozygous mutation in RD3

Stem Cell Research
Leber 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, Savitri Maddileti, Milind Naik, Chitra Kannabiran, Subhadra Jalali, Indumathi Mariappan   +5 more
doaj   +2 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   +5 more sources

Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions

British Journal of Ophthalmology, 2017
Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are both genetically and phenotypically heterogeneous, and characterised clinically by severe congenital/early infancy visual loss, nystagmus, amaurotic pupils and markedly
Neruban Kumaran, Anthony T Moore, Richard G Weleber   +2 more
exaly   +2 more sources

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, 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

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, Rachel C. Fleisher, Alexander I. Alexandrov, Amnon Horovitz   +3 more
doaj   +2 more sources