Results 71 to 80 of about 609,036 (191)

Tissue‐level heterogeneity in FECD: Descemet's membrane phenotypes and association with TCF4 CTG18.1 expansion†

open access: yesThe Journal of Pathology, Volume 269, Issue 3, Page 262-264, July 2026.
Abstract Late‐onset Fuchs endothelial corneal dystrophy (FECD) is commonly framed as a corneal endothelial disease characterised by guttae accumulation and progressive thickening of Descemet's membrane (DM). However, clinical forms and evolutionary profiles vary widely.
Sayo Maeno   +3 more
wiley   +1 more source

Crosstalk between endoplasmic reticulum stress and mitochondrial homeostasis: A new perspective on ophthalmic disease treatment

open access: yesJournal of Cell Communication and Signaling, Volume 20, Issue 2, June 2026.
The graphical abstract follows a top‐to‐bottom flow: stressors → ER–mitochondria crosstalk → ophthalmic diseases. The central panel highlights three core mitochondria‐associated membrane function axes, color‐coded as follows: light yellow for Ca2+ homeostasis, light blue for mitochondrial dynamics, and light red for mitophagy.
Luyang Jiang   +5 more
wiley   +1 more source

Evolution of therapeutic strategy based on oxidant-antioxidant balance for Fuchs endothelial corneal dystrophy [PDF]

open access: yes
Fuchs endothelial corneal dystrophy (FECD) stands as the most prevalent primary corneal endothelial dystrophy worldwide, posing a significant risk to corneal homeostasis and clarity.
Hill, Lisa J.; id_orcid   +8 more
core   +1 more source

Start codon disruption with CRISPR/Cas9 prevents murine Fuchs’ endothelial corneal dystrophy

open access: yes, 2021
A missense mutation of collagen type VIII alpha 2 chain (COL8A2) gene leads to early-onset Fuchs’ endothelial corneal dystrophy (FECD), which progressively impairs vision through the loss of corneal endothelial cells.
Xiaohui Zhang   +16 more
core   +1 more source

A cellular model for the investigation of Fuchs' Endothelial Corneal Dystrophy [PDF]

open access: yesExperimental Eye Research, 2011
Fuchs' endothelial corneal dystrophy is the most common corneal endotheliopathy, and a leading indication for corneal transplantation in the US. Relatively little is known about its underlying pathology. We created a cellular model of the disease focusing on collagen VIII alpha 2 (COL8A2), a collagen which is normally present in the cornea, but which ...
Clare, Kelliher   +8 more
openaire   +2 more sources

Tips, Tricks, and Guides in Descemet Membrane Endothelial Keratoplasty Learning Curve

open access: yesJournal of Ophthalmology, 2021
Lamellar keratoplasty is fast becoming the most popular form of corneal transplantation. The adoption of Descemet membrane endothelial keratoplasty (DMEK) in the management of Fuchs endothelial dystrophy and pseudophakic bullous keratopathy is partly ...
Davide Borroni   +10 more
doaj   +1 more source

Genetic Analysis of Pitt–Hopkins Syndrome Caused by a Novel Splicing Variant (c.1146+3A>T) in the TCF4 Gene

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
A novel pathogenic splicing variant (TCF4c.1146+3A>T) was identified in a fetus with increased nuchal translucency. The variant disrupts normal splicing, causing exon 14 skipping and protein truncation, which is consistent with Pitt–Hopkins Syndrome.
Wenlong Shen   +5 more
wiley   +1 more source

Data and Code for Assessing Fuchs' Corneal Endothelial Dystrophy using Artificial Intelligence-Derived Morphometric Parameters from Specular Microscopy Images

open access: yes
Code repository to generate graphs and statistical analysis on the images of the corneal endothelium with Fuchs' dystrophy based on the article "Assessing Fuchs' Corneal Endothelial Dystrophy using Artificial Intelligence-Derived Morphometric Parameters ...
Fernando Quintero   +3 more
core   +1 more source

Familial presence of early onset fuchs\u27 corneal endothelial dystrophy: A report of two rare cases [PDF]

open access: yes, 2012
A 15-year-old girl presented to our clinic with a history of gradual loss of vision and photosensitivity. She had bilateral corneal haze with stromal oedema. Her best-corrected visual acuity was 20/400 in the right eye and 20/200 in the left.
Adil, Amina   +3 more
core  

Phacoemulsification and Descemet's membrane endothelial keratoplasty in the presence of a corneal scar.

open access: yesVision Pan-America, 2015
To report the surgical outcome and visual rehabilitation  of a patient with Fuchs' dystrophy diagnosed with endothelial dysfunction associated with subepithelial and deep corneal scar and advanced cataract, treated with DMEK combined with ...
Nicolas Cesario Pereira   +3 more
doaj   +1 more source

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