SLC4A11 Three‐Dimensional Homology Model Rationalizes Corneal Dystrophy‐Causing Mutations
Sign Up to like & getrecommendations! Published in 2017 at "Human Mutation"
DOI: 10.1002/humu.23152
Abstract: We studied the structural effects of point mutations of a membrane protein that cause genetic disease. SLC4A11 is a membrane transport protein (OH−/H+/NH3/H2O) of basolateral corneal endothelium, whose mutations cause some cases of congenital hereditary… read more here.
Keywords: homology model; dystrophy; three dimensional; corneal dystrophy ... See more keywords
A patient with dermo-chondro-corneal dystrophy (François syndrome) and acute dyspnea
Sign Up to like & getrecommendations! Published in 2018 at "Intensive Care Medicine"
DOI: 10.1007/s00134-018-5428-x
Abstract: A 38-year-old male with known François syndrome was admitted to the intensive care unit for acute respiratory failure. A contrast-enhanced CT scan revealed a spontaneous pneumothorax, an approximately 8 × 7 × 9 cm partly… read more here.
Keywords: fran ois; intensive care; corneal dystrophy; ois syndrome ... See more keywords
Clinical diversity in patients with Schnyder corneal dystrophy—a novel and known UBIAD1 pathogenic variants
Sign Up to like & getrecommendations! Published in 2018 at "Graefe's Archive for Clinical and Experimental Ophthalmology"
DOI: 10.1007/s00417-018-4075-9
Abstract: PurposeSchnyder corneal dystrophy (SCD) is a rare inherited disease that leads to gradual vision loss by the deposition of lipids in the corneal stroma. The aim of this study is to report a novel pathogenic… read more here.
Keywords: diversity patients; clinical diversity; pathogenic variant; corneal dystrophy ... See more keywords
Automatic segmentation of corneal dystrophy on photographic images based on texture analysis
Sign Up to like & getrecommendations! Published in 2021 at "International Ophthalmology"
DOI: 10.1007/s10792-021-01825-x
Abstract: To develop an automatic algorithm to analyze dystrophic lesions on photographic images of corneal dystrophy. The dataset included 32 images of corneal dystrophy. The dystrophic area was manually segmented twice. Manually labeled dystrophy areas were… read more here.
Keywords: analysis; dystrophy; corneal dystrophy; photographic images ... See more keywords
Is there a genetic link between Keratoconus and Fuch's endothelial corneal dystrophy?
Sign Up to like & getrecommendations! Published in 2021 at "Medical hypotheses"
DOI: 10.1016/j.mehy.2021.110699
Abstract: Keratoconus (KC) is a noninflammatory, bilateral, progressive corneal stromal thinning disorder that leads to corneal ectasia, central anterior corneal stromal scarring, irregular myopic astigmatism, and reduced visual acuity. Fuchs endothelial corneal dystrophy (FECD) is bilateral,… read more here.
Keywords: corneal; dystrophy; corneal dystrophy; endothelial corneal ... See more keywords
Post-LASIK exacerbation of granular corneal dystrophy type 2 in members of a chinese family
Sign Up to like & getrecommendations! Published in 2018 at "Eye"
DOI: 10.1038/eye.2017.265
Abstract: PurposeThe post-LASIK exacerbation of corneal dystrophy, otherwise asymptomatic, is almost exclusively associated with the TGFBI gene mutations at codon 124 in exon 4 and codon 555 in exon 12. It is our intention to demonstrate… read more here.
Keywords: exacerbation; post lasik; corneal dystrophy;
Impairment of the autophagy-lysosomal pathway and activation of pyroptosis in macular corneal dystrophy
Sign Up to like & getrecommendations! Published in 2020 at "Cell Death Discovery"
DOI: 10.1038/s41420-020-00320-z
Abstract: Macular corneal dystrophy (MCD) is ascribed to mutations in the carbohydrate sulfotransferase ( CHST6 ) gene affecting keratan sulfate (KS) hydrophilicity and causing non-sulfated KS to precipitate in keratocytes and the corneal stroma. We investigated… read more here.
Keywords: pathway activation; pyroptosis; macular corneal; corneal dystrophy ... See more keywords
[Epithelial Dystrophies of the Cornea].
Sign Up to like & getrecommendations! Published in 2019 at "Klinische Monatsblatter fur Augenheilkunde"
DOI: 10.1055/a-0849-0228
Abstract: In 2015, the first revision of the international classification of corneal dystrophies (IC3D) has been published. According to this latest version of the IC3D the dystrophies of the cornea are divided into · epithelial and… read more here.
Keywords: dystrophies cornea; epithelial dystrophies; dystrophy; corneal dystrophy ... See more keywords
Descemet Stripping without Transplantation in Fuchs Endothelial Corneal Dystrophy.
Sign Up to like & getrecommendations! Published in 2022 at "Klinische Monatsblatter fur Augenheilkunde"
DOI: 10.1055/a-1751-3411
Abstract: Traditionally, corneal endothelium is considered post-mitotic, which means that spontaneous regeneration after loss of endothelial cells (e.g., in the context of Fuchs endothelial corneal dystrophy) is not expected. Nevertheless, it has been observed in several… read more here.
Keywords: endothelial corneal; descemet stripping; fuchs endothelial; corneal ... See more keywords
Unilateral posterior polymorphous corneal dystrophy due to a novel ZEB1 gene mutation in a Korean girl
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2106495
Abstract: Posterior polymorphous corneal dystrophy (PPCD) is an autosomal dominant inherited disease that usually develops in the second and third decades of life and triggers bilateral endothelial abnormalities. It is known that PPCD is typically not… read more here.
Keywords: posterior polymorphous; ppcd; corneal; zeb1 ... See more keywords
A Close Look at the Clinical Efficacy of Rho-Associated Protein Kinase Inhibitor Eye Drops for Fuchs Endothelial Corneal Dystrophy
Sign Up to like & getrecommendations! Published in 2021 at "Cornea"
DOI: 10.1097/ico.0000000000002642
Abstract: Abstract: The current understanding on the clinical efficacy of Rho-associated protein kinase (ROCK) inhibitor for treating Fuchs endothelial corneal dystrophy is summarized to clarify whether the “off-label” ROCK-inhibitor eye-drop application are appropriate. ROCK-inhibitor eye drops… read more here.
Keywords: inhibitor eye; corneal dystrophy; endothelial corneal; inhibitor ... See more keywords