Results 61 to 70 of about 609,006 (169)

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

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, Feng, Yuchong, Li, Wei, Gu, Hao, Ou, Shangkun, Li, Xiaoshuang, Liu, Yanbo, Lu, Zhaoxiang, Wu, Yiming   +8 more
core   +1 more source

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

, 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, Lara Carroll, Jayakrishna Ambati, Bonnie Archer, Jinlu Liu, Albert S Jun, Hironori Uehara, Sai Bhuvanagiri, Siddharth Narendran, Balamurali K Ambati, Austin Bohner, Susie Choi, Guangping Gao, Sangeetha Ravi Kumar, Yue Zhang, Wei Liu, Felipe Pereira   +16 more
core   +1 more source

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

Molecular 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, Yan Zhang, Junjie Wu, Jue Zhao, Yaer Lv, Xiaohua Tang   +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

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, Kevin David Mendoza Vanegas, Andres Marrugo, Angelica prada   +3 more
core   +1 more source

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

, 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, Chaudhry, Tanveer Anjum, Ahmad, Khabir, Kazmi, Faraz   +3 more
core  

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

Vision 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, Aline Moiyama, Isabel Camila Amorim Gonzaga, Adriana dos Santos Forseto   +3 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Targeting the Expanded TCF4/Fuchs’ Endothelial Corneal Dystrophy CUG Repeat with Morpholino Peptide Conjugates

, 2023
Fuchs’ corneal endothelial dystrophy (FECD) is a major cause of vision loss. Corneal transplantation is the only effective curative treatment, but this surgery has limitations. A pharmacological intervention would complement surgery and be beneficial for
Mahboubeh Kheirabadi (2026798), V. Vinod Mootha (6264278), Jiaxin Hu (1327875), Ziqing Qian (1285203), Xiulong Shen (1655650), David R. Corey (1327872), Matthew D. Streeter (1754443)   +6 more
core   +1 more source

Assessment of Early Fuchs Endothelial Corneal Dystrophy and CTG Trinucleotide Expansion Positivity Using Scheimpflug Imaging

Ophthalmology Science
Purpose: To evaluate changes in corneal densitometry and optical aberrations using Scheimpflug imaging in early Fuchs endothelial corneal dystrophy (FECD) and to assess their association with CTG trinucleotide repeat expansion.
Stanley S.J. Poh, MBBS, Kai Yuan Tey, MBBS, Gary S.L. Peh, PhD, Dawn J.H. Neo, MSc, Hla Myint Htoon, PhD, Evan K.L. Lee, Yu Qiang Soh, MBBS, V Vinod Mootha, MD, Jodhbir S. Mehta, PhD   +8 more
doaj   +1 more source

Waiting list distribution with indications for corneal transplantation.

, 2018
This figure shows the distribution of the corneal graft waiting list with indications for corneal transplantation (Fuchs' dystrophy, keratoconus, bullous keratopathy, trauma, rejection, and others) from 2004 to 2015 in 735 cases. The most common surgical
Tobias Röck (5447411), Karl U. Bartz-Schmidt (167658), Daniel Röck (5447414)   +2 more
core   +1 more source