Results 71 to 80 of about 22,360 (228)

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

Progression Over 5 Years of Prelaminar Hyperreflective Lines to Optic Disc Drusen in the Copenhagen Child Cohort 2000 Eye Study.

Journal of neuro-ophthalmology, 2020
BACKGROUND The purpose of the study was to examine 5-year changes in eyes with optic disc drusen at baseline on optical coherence tomography (OCT) scans and the relation of incident drusen to hyperreflective prelaminar lines. METHODS The study included
L. Malmqvist, X. Li, M. H. Hansen, A. K. Thomsen, A. M. Skovgaard, E. Olsen, M. Larsen, I. C. Munch, S. Hamann   +8 more
semanticscholar   +1 more source

Comparative study of optic nerve head optical coherence tomography in papilledema versus drusen

Journal of the Egyptian Ophthalmological Society
Background Papilledema can cause permanent visual impairment, while optic nerve head drusen (ONHD) is typically benign. Spectral domain optic coherence tomography (SD-OCT) is essential for differentiating these conditions, providing high-resolution ...
Abla M.A.M. Yamani, Adel G.Z. Galal, Gerges F.Y. Ishak   +2 more
doaj   +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

Long-term Evolution and Remodeling of Soft Drusen in Rhesus Macaques

Investigative Ophthalmology and Visual Science, 2020
Purpose To characterize the evolution and structure of soft drusen in aged rhesus macaques using in vivo multimodal retinal imaging and ex vivo histologic and ultrastructural analyses as a nonhuman primate model of early age-related macular degeneration (
Glenn Yiu, S. Chung, I. N. Mollhoff, Y. Wang, U. Nguyen, B. Shibata, David Cunefare, Sina Farsiu, J. Roberts, S. Thomasy   +9 more
semanticscholar   +1 more source

The m.14484T>C MT‐ND6 Mutation Presenting with a Hereditary Spastic‐Paraparesis Phenotype

Movement Disorders Clinical Practice, EarlyView.
Gabriel Amorelli, Christelle Nilles, Gerald Pfeffer, Matthew Joel, Davide Martino   +4 more
wiley   +1 more source

Ocular Manifestations of Metabolic Syndrome: A Systemic Vascular Phenotype

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Context Metabolic syndrome (MetS) is defined by central obesity, insulin resistance, hypertension and dyslipidemia. MetS affects over one‐third of US adults. Beyond its cardiovascular burden, MetS has clinically relevant associations with ocular health and may contribute to a systemic vascular and neuro‐metabolic phenotype involving the retina,
Ron T. Varghese, Ansu A. John
wiley   +1 more source

Genetic Susceptibility, Diet Quality, and Two-Step Progression in Drusen Size

Investigative Ophthalmology and Visual Science, 2020
Purpose To investigate the relationship of growth in drusen size with genetic susceptibility and adherence to the alternate Mediterranean diet. Methods Participants in this analysis had complete ocular, genetic, and dietary data with mean follow-up time ...
B. Merle, B. Rosner, J. Seddon
semanticscholar   +1 more source

Revised Swedish visual field standards for a driver's licence: Threshold perimetry as a predictor of eligibility according to the current Swedish and current Norwegian suprathreshold standards

Acta Ophthalmologica, Volume 104, Issue 6, Page e709-e717, September 2026.
Abstract Purpose To explore whether threshold perimetry can predict fulfilment of the current Swedish and current Norwegian Esterman perimetry standards for Group 1 driver's licence, and differences in compliance between the former and current Swedish visual field standards.
Wid Saadi, Tomas Bro, Susanna Sagerfors
wiley   +1 more source

Association of Visual Function Measures with Drusen Volume in Early Stages of Age-Related Macular Degeneration

Investigative Ophthalmology and Visual Science, 2020
Purpose To assess which visual function measures are most strongly associated with overall retinal drusen volume in age-related macular degeneration (AMD).
S. Pondorfer, Maximilian W. M. Wintergerst, Shekoufeh Gorgi Zadeh, T. Schultz, M. Heinemann, F. Holz, R. Finger   +6 more
semanticscholar   +1 more source