Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms

LM Reis, S Seese, D Costakos, EV Semina - Progress in retinal and eye …, 2024 - Elsevier
Development of the anterior segment of the eye requires reciprocal sequential interactions
between the arising tissues, facilitated by numerous genetic factors. Disruption of any of …

Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project

O Al-Saei, S Malka, N Owen, E Aliyev, FR Vempalli… - BMC genomics, 2024 - Springer
Childhood glaucoma (CG) encompasses a heterogeneous group of genetic eye disorders
that is responsible for approximately 5% of childhood blindness worldwide. Understanding …

Investigation of the functional impact of CHED- and FECD4-associated SLC4A11 mutations in human corneal endothelial cells

DD Chung, AC Chen, CH Choo, W Zhang, D Williams… - Plos one, 2024 - journals.plos.org
Mutations in the solute linked carrier family 4 member 11 (SLC4A11) gene are associated
with congenital hereditary endothelial dystrophy (CHED) and Fuchs corneal endothelial …

[HTML][HTML] Updates on congenital hereditary endothelial dystrophy

N Mehta, A Verma, DS Achanta… - Taiwan Journal of …, 2023 - journals.lww.com
Congenital hereditary endothelial dystrophy (CHED) is a rare genetic corneal disorder
causing progressive cornea clouding and significant visual impairment. CHED remains a …

[BOOK][B] Atlas anatomoclinique en ophtalmologie

M Putterman - 2024 - books.google.com
La collection «Elsevier Atlas» fait le point sur une pathologie ou une technique, ens'
appuyant sur une iconographie riche et exemplaire, expliquée et commentée par le texte …