Results 91 to 100 of about 30,772 (202)

Prenatal and childhood exposure to smoking and retinal nerve fibre layer thickness: A meta‐analysis of three independent birth cohorts

Acta Ophthalmologica, Volume 104, Issue 6, Page e686-e694, September 2026.
Abstract Purpose To examine retinal nerve fibre layer (RNFL) characteristics in relation to prenatal and postnatal smoking exposure in three independent birth cohorts: two Danish and one Australian cohort. Methods A combined meta‐analysis of peripapillary retinal nerve fibre thickness in the Copenhagen Prospective Studies on Asthma in Childhood 2000 ...
Linna Zhu, Inger Christine Munch, Samantha Sze‐Yee Lee, David A. Mackey, Tamo Sultan, Klaus Bønnelykke, Bo Chawes, Michael Larsen, Nicklas Brustad   +8 more
wiley   +1 more source

Frequency of nystagmus in retinitis pigmentosa patients

Journal of the Pakistan Medical Association
Objective: To determine the frequency of nystagmus experienced by patients with retinitis pigmentosa. Method: The descriptive study was conducted at the University of Lahore Teaching Hospital, Lahore, Pakistan, from May to August 2024, and comprised ...
Maryam Hameed, Maryam Mansha , Maham Shabir , Maryam Iftikhar , Usama Elahi, Mawra Zahid   +5 more
doaj   +1 more source

Retinitis Pigmentosa

Asia-Pacific Journal of Ophthalmology, 2016
Retinitis pigmentosa is the most common form of hereditary retinal degeneration causing blindness. Great progress has been made in the identification of the causative genes. Gene diagnosis will soon become an affordable routine clinical test because of the wide application of next-generation sequencing.
openaire   +2 more sources

Expanding Spectrum of FIG4‐Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype–Phenotype Correlations

Clinical Genetics, Volume 110, Issue 3, Page 363-368, September 2026.
FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley   +1 more source

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

Clinical Genetics, Volume 110, Issue 3, Page 336-346, September 2026.
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen, Karen Grønskov, Line Kessel, Sarah Linea von Holstein, Lisbeth Birk Møller, Mette Kjøbæk Gundestrup Andersen, Marianne Søndergaard Khinchi, Steffen Hamann, Marianne Wegener, Mette Bertelsen   +9 more
wiley   +1 more source

Biogenesis of TNF‐α‐insights into proteostasis and inflammation

The FEBS Journal, Volume 293, Issue 18, Page 5645-5663, September 2026.
TNF‐α biogenesis, trafficking, and signalling are tightly and reciprocally coupled to cellular proteostasis systems, including ER chaperones and endoplasmic reticulum‐associated degradation. This bidirectional crosstalk determines whether TNF‐α responses are adaptive or proteotoxic.
Bailasan Haidar, Céline Philippe, Eric Chevet, Jiří Zahradník   +3 more
wiley   +1 more source

Neuropathy With Demyelinating Features in a Patient With Biallelic HARS1 Variants

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Background and Aims The HARS1 gene encodes cytoplasmic histidyl‐tRNA synthetase, which catalyzes the ligation of histidine to tRNAHIS in the cytoplasm as an early step in protein biosynthesis and is essential for cell viability. Pathogenic variants in HARS1 have been associated with three phenotypes: autosomal dominant Charcot–Marie–Tooth (CMT)
Christina Del Greco, Allison R. Cale, Karl Haeberlein, Anthony Antonellis, Michael E. Shy, Tiffany Grider   +5 more
wiley   +1 more source

Longitudinal Evaluation of Chromatic Pupillometry and Retinal Thickness in Dogs With Sudden Acquired Retinal Degeneration Syndrome

Veterinary Ophthalmology, Volume 29, Issue 5, September 2026.
ABSTRACT Objective To determine longitudinal changes in chromatic pupillary light reflexes (cPLR) and retinal layers in dogs with sudden acquired retinal degeneration syndrome (SARDS). Animals Studied Clinical evaluation: Fifteen SARDS‐affected and nine control dogs.
Soohyun Kim, Ann E. Cooper, David J. Maggs, Ariana D. Marangakis, Tran Nguyen, Monica Motta, Sara M. Thomasy   +6 more
wiley   +1 more source

Targeting AKT via SC79 for Photoreceptor Preservation in Retinitis Pigmentosa Mouse Models

Biomedicines
Background/Objectives: Retinitis pigmentosa is a degenerative retinal disease and a major cause of inherited blindness globally. The pro-survival kinase AKT is downregulated in degenerating photoreceptors in retinitis pigmentosa, and its activation has ...
Alicia A. Brunet, Kate Gilbert, Annie L. Miller, Rebekah E. James, Xin Ru Lim, Alan R. Harvey, Livia S. Carvalho   +6 more
doaj   +1 more source

Case Report: Effective management of acute corneal hydrops with concurrent nystagmus and retinitis pigmentosa: combination of deep lamellar corneal suturing and anterior chamber gas injection

Frontiers in Medicine
BackgroundSummarizing the clinical management and prognosis of acute corneal hydrops complicated by nystagmus and retinitis pigmentosa, this study provides a reference for the diagnosis and treatment of similar rare cases.Case presentationRetrospective ...
Ying Zhou, Abudusataer Aishan, YanChuan Yang, Xia Li   +3 more
doaj   +1 more source