Solute-linked cotransporter, SLC4A11, a member of the bicarbonate transporter family, is an electrogenic H+ transporter activated by NH3 and alkaline pH. Although SLC4A11 does not …
Corneal dystrophies represent a group of heterogeneous hereditary disorders causing progressive corneal opacification and blindness. Current corneal transplant management for …
M Vanathi, N Raj, R Kusumesh, N Aron, N Gupta… - Survey of …, 2022 - Elsevier
Managing pediatric corneal disorders is challenging as the prognosis of pediatric keratoplasty depends on several factors. Advancements in the genetic basis of congenital …
Corneal endothelial dystrophies are a heterogeneous group of diseases with different modes of inheritance and genetic basis for each dystrophy. The genes associated with these …
Y Oie, T Yamaguchi, N Nishida, N Okumura, S Maeno… - Cornea, 2022 - journals.lww.com
Purpose: There are no defined diagnostic criteria and severity classification for Fuchs endothelial corneal dystrophy (FECD), which are required for objective standardized …
TR Tsedilina, E Sharova, V Iakovets… - Frontiers in …, 2023 - frontiersin.org
Introduction The pathogenic role of variants in TCF4 and COL8A2 in causing Fuchs' endothelial corneal dystrophy (FECD) is not controversial and has been confirmed by …
Mutations in the solute linked carrier family 4 member 11 (SLC4A11) gene are associated with congenital hereditary endothelial dystrophy (CHED) and Fuchs corneal endothelial …
D Malhotra, JR Casey - Reviews of Physiology, Biochemistry and …, 2020 - Springer
The cornea, the eye's outermost layer, protects the eye from the environment. The cornea's innermost layer is an endothelium separating the stromal layer from the aqueous humor. A …
N Tananuvat, R Tananuvat, W Chartapisak… - Journal of Human …, 2021 - nature.com
Harboyan syndrome or corneal dystrophy and progressive deafness (MIM# 217400) is characterized by congenital hereditary endothelial dystrophy (CHED) and progressive …