Results 161 to 170 of about 73,477 (262)

Clinical and molecular features of PRCD‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the clinical and genetic characteristics of patients with biallelic disease‐causing variants in the PRCD (Progressive Rod‐Cone Degeneration) gene. Methods Multicentre, retrospective cohort study of 19 patients from 13 families across nine reference centres in six countries.
Vasil Kostin, Karolina Kaminska, Marco Cattaneo, Enrico Ambrosini, Carmen Ayuso, Almudena Ávila‐Fernández, Béatrice Bocquet, Luisa Coutinho‐Santos, Benedetto Falsini, Lidia Fernandez‐Caballero Palomeque, Bohdan Kousal, Petra Liskova, Inmaculada Martín‐Mérida, María Juliana Ballesta‐Martínez, Daan Panneman, Susanne Roosing, Isabelle Meunier, José M. Millán, Monika Pankievič, Irene Perea‐Romero, Virginie Peter, Giorgio Placidi, Cristina Santos, Francesca Simonelli, Ana Berta Sousa, Francesco Testa, Marie Vajter, Marianna Weener, Mathieu Quinodoz, Carlo Rivolta, Giacomo Calzetti   +30 more
wiley   +1 more source

Regional growth kinetics of geographic atrophy in age‐related macular degeneration with and without fovea‐sparing

Acta Ophthalmologica, EarlyView.
Abstract Purpose Fovea‐sparing geographic atrophy (GA) patients retain near‐normal central vision. To better understand GA progression in relation to the fovea, we performed a semi‐automated image analysis of regional atrophy growth in a long‐term GA natural‐history cohort. Methods Prospective‐observational, single‐centre‐study (02/2013–07/2025) at the
Daniel R. Muth, Abinaya P. Venkataraman, Alberto Dominguez‐Vicent, Goran Petrovski, Pete A. Williams, Laurence Quérat, Filippo Locri, Sandrine A. Zweifel, Anders Kvanta   +8 more
wiley   +1 more source

Photoreceptor

Oyo Buturi, 1985
YOSHIZAWA, Toru, MATUOKA, Shinzi
openaire   +1 more source

First Insights on Photoreceptor Organ Ultrastructure in Marine Chaetonotida (Gastrotricha): Species of Xenotrichula and Draculiciteria (Xenotrichulidae)

Acta Zoologica, EarlyView.
ABSTRACT Marine gastrotrichs inhabit sediments with limited available light, yet evidence suggests that photoreceptor organs are present throughout the phylum Gastrotricha. Here, we confirm this proposition with ultrastructural descriptions of photoreceptive organs in two species of Xenotrichulidae (Order Chaetonotida) that lack pigmented ocelli ...
Thiago Quintão Araújo, Rick Hochberg
wiley   +1 more source

Sevenless: its function and structure in the specification of the Drosophila R7 photoreceptor. [PDF]

Genetics
Tomlinson A.
europepmc   +1 more source

A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8

Brain Pathology, EarlyView.
We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Ulrika Lindgren, Carola Hedberg‐Oldfors, Kittichate Visuttijai, Sara Nordström, Hans Goebel, Anders Oldfors   +5 more
wiley   +1 more source

Elevating Jak-STAT signaling via SOCS3 deletion sustains photoreceptor viability and visual function in mouse models of retinitis pigmentosa. [PDF]

Cell Commun Signal
Wang Y, Nusinowitz S, Yang XJ.
europepmc   +1 more source

CRB1‐Associated Inherited Retinal Dystrophies: Prospective Natural History Study With 4 Years of Follow‐Up

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background The lack of validated and sensitive clinical endpoints remains a major challenge in the design of gene therapy trials for inherited retinal dystrophies (IRDs). This prospective longitudinal cohort study describes the natural disease progression of IRDs caused by pathogenic mutations in the Crumbs homologue 1 (CRB1) gene, and ...
Jessica S. Karuntu, Xuan‐Thanh‐An Nguyen, Mays Talib, Mary J. van Schooneveld, Jan Wijnholds, Maria M. van Genderen, Jos Twisk, Nicoline E. Schalij‐Delfos, Caroline C. W. Klaver, Ralph J. Florijn, Jacoline B. ten Brink, Magda A. Smoor, L. Ingeborgh van den Born, Carel B. Hoyng, Alberta A. H. J. Thiadens, Camiel J. F. Boon   +15 more
wiley   +1 more source

Retinal organoids: current status of development and new avenues for application in disease modeling, drug discovery and therapeutics. [PDF]

Int J Retina Vitreous
Agarwal R, Iezhitsa I, Hombrebueno JR, Agarwal P.   +3 more
europepmc   +1 more source

Visualization Guidelines for the Control Room: An Evaluation of Visual Alert Encoding with Domain Experts

Computer Graphics Forum, EarlyView.
Abstract Visualization is routinely used in control rooms to maintain situational awareness of complex sociotechnical systems. While control room design often incorporates human factors engineering to identify the information presented, it is not unusual for control room visual encodings to rely closely on operator experience and historical encodings ...
P. Baudains, A.I. Meso, G. Todeschini, R. Borgo   +3 more
wiley   +1 more source