Results 31 to 40 of about 9,112 (206)

Dystrophy or No Dystrophy: A Retinal Puzzle

Delhi Journal of Ophthalmology
Diseases affecting the peripheral retina are usually associated with diminished rod photoreceptor function and thus present with nyctalopia, i.e., night blindness. Such patients should be thoroughly investigated for different causes of nyctalopia, including rod dystrophies, xerophthalmia, and peripheral retinal vascular diseases (such as retinopathy of
Hitisha Mittal, Anurag Narula, Nishi Satish   +2 more
openaire   +1 more source

3D‐Printed Corneal Substitutes: Materials, Fabrication, and Preclinical Progress

Advanced Materials Technologies, EarlyView.
Successful clinical translation of 3D‐printed corneal substitutes relies on the interplay between the bioink properties, cellular component, and the fabrication process. These factors influence the critical properties of the construct, including optical transparency, mechanical stability, suture retention, that ultimately govern long‐term stromal ...
Shadi Moshayedi, Ashley Vazquez, Alexander J. Choi, Dimitrios Karamichos, Jayoung Kim   +4 more
wiley   +1 more source

Research Models and Gene Augmentation Therapy for CRB1 Retinal Dystrophies

Frontiers in Neuroscience, 2020
Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are inherited degenerative retinal dystrophies with vision loss that ultimately lead to blindness.
Nanda Boon, Jan Wijnholds, Jan Wijnholds, Lucie P. Pellissier   +3 more
doaj   +1 more source

Novel AAV capsids for intravitreal gene therapy of photoreceptor disorders

EMBO Molecular Medicine, 2021
Gene therapy using recombinant adeno‐associated virus (rAAV) vectors to treat blinding retinal dystrophies has become clinical reality. Therapeutically impactful targeting of photoreceptors still relies on subretinal vector delivery, which detaches the ...
Marina Pavlou, Christian Schön, Laurence M Occelli, Axel Rossi, Nadja Meumann, Ryan F Boyd, Joshua T Bartoe, Jakob Siedlecki, Maximilian J Gerhardt, Sabrina Babutzka, Jacqueline Bogedein, Johanna E Wagner, Siegfried G Priglinger, Martin Biel, Simon M Petersen‐Jones, Hildegard Büning, Stylianos Michalakis   +16 more
doaj   +1 more source

Chiral Nanoparticles Suppress Inflammatory Infiltration to Promote Extracellular Matrix Remodeling for Ectopia Lentis Therapy

Advanced Science, EarlyView.
L‐cysteine‐configured chiral polyurethane nanoparticles suppress ocular inflammation and reduce extracellular matrix (ECM) degradation in ectopia lentis by regulating macrophages polarization and inhibiting nuclear factor kappa B signaling pathway. By promoting zonular fiber‐associated protein restoration and tissue repair, this minimally invasive ...
Yinuo Wen, Yan Yang, Haihan Gao, Yan Liu, Xinyue Wang, Linghao Song, Ruohong Li, Ao Miao, Jie Xu, Zhennan Zhao, Dan Li, Shenjie Peng, Linzhao Li, Min Zhang, Yonghang Liu, Liren Wang, Tianhui Chen, Yongxiang Jiang   +17 more
wiley   +1 more source

Study of Frequency and Nosology of Clinical Varieties of Retinal Dystrophies in Children and Adolescents

Oftalʹmologiâ, 2023
Background. Particular vigilance in timely detection of retinal dystrophies (RD) in children is necessary as effective measure to prevent formation of rhegmatogenous retinal detachment. Purpose. To study frequency and structure of clinical forms of RD in
O. V. Kolenko, E. L. Sorokin, A. V. Sergeeva   +2 more
doaj   +1 more source

Large‐scale Whole‐Exome Sequencing Defines the Protein‐Coding Architecture of Retinal Structure, Visual Function, and Major Blinding Diseases

Advanced Science, EarlyView.
Large‐scale whole‐exome sequencing in 356,982 UK Biobank participants defines the protein‐coding architecture of retinal structure, visual function, and major blinding diseases. Pleiotropic genes, including CFI, C3, and RIOX1, bridge multiple retinal phenotypes, while experimental validation of FYB2 implicates RPE barrier dysfunction, providing ...
Jianqing Li, Yijun Ge, Jingxiao Du, Liu Yang, Bangsheng Wu, Chenyue Hang, Mengxi Shen, Yimin Mao, Ting Zhang, Qiyu Bo, Tianyuan Zhao, Yutian Jiao, Yazhi Wang, Shunxiang Gao, Jieqiong Chen, Junran Sun, Tong Li, Huixun Jia, Yang Dou, Wei Cheng, Xiaoling Wan, Jintai Yu, Xiaodong Sun, Bai Lu   +23 more
wiley   +1 more source

Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series

Orphanet Journal of Rare Diseases, 2022
Background Inherited retinal dystrophies describe a heterogeneous group of retinal diseases that lead to the irreversible degeneration of rod and cone photoreceptors and eventual blindness.
Jin Kyun Oh, José G. Vargas Del Valle, Jose Ronaldo Lima de Carvalho, Young Joo Sun, Sarah R. Levi, Joseph Ryu, Jing Yang, Takayuki Nagasaki, Andres Emanuelli, Nailyn Rasool, Rando Allikmets, Janet R. Sparrow, Natalio J. Izquierdo, Jacque L. Duncan, Vinit B. Mahajan, Stephen H. Tsang   +15 more
doaj   +1 more source

Generation of the human iPSC line ESi082-A from a patient with macular dystrophy associated to mutations in the CRB1 gene

Stem Cell Research, 2021
Retinal dystrophies associated to mutations in the CRB1 gene comprise a wide array of clinical presentations. A blood sample from a patient with a family history of CRB1-retinal dystrophy was used to prepare the iPSC line ESi082-A.
Alberto Cañibano-Hernández, Lourdes Valdes-Sanchez, Ana B. Garcia-Delgado, Beatriz Ponte-Zúñiga, Francisco J. Diaz-Corrales, Berta de la Cerda   +5 more
doaj   +1 more source

Health‐Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet–Biedl Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bardet–Biedl syndrome (BBS) is a rare genetic condition with a broad phenotypic spectrum. Knowledge about quality of life, executive functioning, and eating behavior in adults with BBS remains limited. This study aimed to assess health‐related quality of life (HRQoL), everyday executive functioning, and eating behavior in adults with BBS and ...
Cecilie Fremstad Rustad, Charlotte von der Lippe, Hilde Nordgarden, Jeanette Ullmann Miller, Mina Susanne Weedon‐Fekjær, Ragnheidur Bragadottir, Solrun Sigurdardottir   +6 more
wiley   +1 more source