Results 131 to 140 of about 12,927 (274)

Retinal gene therapy with a large MYO7A cDNA using adeno-associated virus. [PDF]

, 2013
Usher 1 patients are born profoundly deaf and then develop retinal degeneration. Thus they are readily identified before the onset of retinal degeneration, making gene therapy a viable strategy to prevent their blindness.
Boye, S, Boye, SE, Chiodo, V, Dyka, F, Fofo, H, Hauswirth, WW, Lopes, VS, Louie, CM, Williams, DS   +8 more
core   +1 more source

Comparaison des coûts du diagnostic moléculaire des rétinites pigmentaires entre le séquençage selon Sanger et un séquençage à haut débit [PDF]

, 2012
La rétinite pigmentaire (RP) et l'amaurose congénitale de Leber (LCA) sont deux maladies héréditaires classées dans le groupe des rétinopathies pigmentaires. Plus de 100 gènes ou loci ont étés identifiés dans les RP (comptant pour 60% des patients) et 14
Bernasconi, M.
core  

Harnessing the Potential of Human Pluripotent Stem Cells and Gene Editing for the Treatment of Retinal Degeneration [PDF]

, 2017
PURPOSE OF REVIEW: A major cause of visual disorders is dysfunction and/or loss of the light-sensitive cells of the retina, the photoreceptors. To develop better treatments for patients, we need to understand how inherited retinal disease mutations ...
Ali, RR, Georgiadis, A, Ovando-Roche, P, Pearson, RA, Smith, AJ   +4 more
core   +1 more source

R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal [PDF]

, 2017
RPE65 is a retinal pigment epithelial protein essential for the regeneration of 11-cis-retinal, the chromophore of cone and rod visual pigments. Mutations in RPE65 lead to a spectrum of retinal dystrophies ranging from Leber's congenital amaurosis to ...
Grimm, Christian, Oberhauser, Vitus, Remé, Charlotte E., Samardzija, Marijana, Seeliger, Mathias, Tanimoto, Naoyuki, Thiersch, Markus, von Lintig, Johannes, Wenzel, Andreas   +8 more
core  

Using Stem Cells to Model Diseases of the Outer Retina

Computational and Structural Biotechnology Journal, 2015
Retinal degeneration arises from the loss of photoreceptors or retinal pigment epithelium (RPE). It is one of the leading causes of irreversible blindness worldwide with limited effective treatment options.
Camille Yvon, Conor M. Ramsden, Amelia Lane, Michael B. Powner, Lyndon da Cruz, Peter J. Coffey, Amanda-Jayne F. Carr   +6 more
doaj   +1 more source

Gene therapy of dominant CRX-Leber congenital amaurosis using patient stem cell-derived retinal organoids.

Stem Cell Reports, 2021
Kamil Kruczek, Z. Qu, James Gentry, Benjamin R. Fadl, L. Gieser, S. Hiriyanna, Zachary Batz, Mugdha D. Samant, Ananya Samanta, Colin J. Chu, Laura Campello, B. Brooks, Zhijian Wu, A. Swaroop   +13 more
semanticscholar   +1 more source

In conditions of limited chromophore supply rods entrap 11-cis-retinal leading to loss of cone function and cell death [PDF]

, 2017
RPE65 is a retinoid isomerase required for the production of 11-cis-retinal, the chromophore of both cone and rod visual pigments. We recently established an R91W knock-in mouse strain as homologous animal model for patients afflicted by this mutation in
Arsenijevic, Yvan, Beck, Susanne, Fahl, Edda, Grimm, Christian, Joly, Sandrine, Kostic, Corinne, Oberhauser, Vitus, Samardzija, Marijana, Seeliger, Mathias W., Tanimoto, Naoyuki, Thiersch, Markus, von Lintig, Johannes, Wenzel, Andreas   +12 more
core  

Voretigene Neparvovec and Gene Therapy for Leber’s Congenital Amaurosis: Review of Evidence to Date

The Application of Clinical Genetics, 2020
Srikanta Kumar Padhy,1 Brijesh Takkar,2,3 Raja Narayanan,2 Pradeep Venkatesh,4 Subhadra Jalali2,5 1Vitreoretina and Uveitis Services, L V Prasad Eye Institute, Mithu Tulsi Chanrai Campus, Bhubaneswar, India; 2Srimati Kanuri Santhamma Center for ...
Padhy SK, Takkar B, Narayanan R, Venkatesh P, Jalali S   +4 more
doaj  

The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.

Ophthalmology Retina, 2022
Leo C. Hahn, M. Georgiou, Hind Almushattat, M. V. van Schooneveld, E. R. de Carvalho, Nieneke L. Wesseling, J. T. ten Brink, R. Florijn, Birgit I. Lissenberg-Witte, Ine Strubbe, C. van Cauwenbergh, J. de Zaeytijd, S. Walraedt, Elfride de Baere, R. Mukherjee, M. Mckibbin, Magda A. Meester-Smoor, A. Thiadens, S. Al-Khuzaei, Engin Akyol, A. Lotery, M. V. van Genderen, J. O. Norel, L. Ingeborgh van den Born, C. Hoyng, C. Klaver, S. Downes, A. Bergen, B. Leroy, M. Michaelides, C. Boon   +30 more
semanticscholar   +1 more source

Spectrum ofSPATA7mutations in Leber congenital amaurosis and delineation of the associated phenotype [PDF]

, 2010
Isabelle Perrault, Sylvain Hanein, Xavier Gérard, Nathalie Delphin, Lucas Fares‐Taie, S. Gerber, Valérie Pelletier, Emilie Mercé, Hélène Dollfus, Bernard Puech, Sabine Defoort‐Dhellemmes, Michael D Petersen, Dimitrios Zafeiriou, Arnold Münnich, Josseline Kaplan, Olivier Roche, Jean‐Michel Rozet   +16 more
openalex   +1 more source