Results 51 to 60 of about 11,800 (170)
Clinical and molecular features of PRCD‐associated retinopathy
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 +30 more
wiley +1 more source
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 +15 more
wiley +1 more source
The m.14484T>C MT‐ND6 Mutation Presenting with a Hereditary Spastic‐Paraparesis Phenotype
Movement Disorders Clinical Practice, EarlyView.
Gabriel Amorelli +4 more
wiley +1 more source
Ocular Manifestations of Metabolic Syndrome: A Systemic Vascular Phenotype
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
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
Histology (H&E) and transmission electron microscopy (TEM) data are provided showing age-related changes in the retinal structure of sTg-IRBP:HEL mice.
Yi-Hsia Liu +4 more
doaj +1 more source
Apolipoprotein Localization in Isolated Drusen and Retinal Apolipoprotein Gene Expression
To evaluate apolipoprotein (Apo) gene expression in native human retinal pigment epithelium (RPE) and neurosensory retina and to detect apolipoproteins within age-related, extramacular drusen.Drusen were isolated manually from 10 eyes of 10 donors (age range, 58-93 years) with grossly normal maculas that were preserved in 4% paraformaldehyde within 6 ...
Chuan-Ming, Li +3 more
openaire +2 more sources
Abstract Purpose To examine the age distribution and characteristics of choroidal nevi in a large nationwide sample. Methods We included all individuals who underwent fundus photography in a nationwide chain of optometry stores during a 5‐week period in 2023.
Carsten Faber +3 more
wiley +1 more source
The prevalence of diabetic retinopathy was estimated to be 28.3% (95% CI 21.1–35.4), with most of the cases corresponding to mild non‐proliferative diabetic retinopathy. ABSTRACT Background Diabetic retinopathy is a complication of diabetes and the leading cause of irreversible blindness in people of working age.
Lorrana Luysse dos Anjos Assis +6 more
wiley +1 more source
Age-related macular degeneration (AMD) is a progressive retinal neurodegenerative disorder characterized by extracellular deposits known as drusen. A major constituent of drusen deposits are Alzheimer disease-associated amyloid β (Aβ) peptides.
Tuhina Prasad +6 more
doaj +1 more source

