The lens epithelium as a major determinant in the development, maintenance, and regeneration of the crystalline lens

Z Liu, S Huang, Y Zheng, T Zhou, L Hu, L Xiong… - Progress in retinal and …, 2023 - Elsevier
The crystalline lens is a transparent and refractive biconvex structure formed by lens
epithelial cells (LECs) and lens fibers. Lens opacity, also known as cataracts, is the leading …

Molecular genetics of congenital cataracts

J Li, X Chen, Y Yan, K Yao - Experimental Eye Research, 2020 - Elsevier
Congenital cataracts, the most common cause of visual impairment and blindness in
children worldwide, have diverse etiologies. According to statistics analysis, about one …

[HTML][HTML] Recent developments in the management of congenital cataract

D Bremond-Gignac, A Daruich, MP Robert… - Annals of translational …, 2020 - ncbi.nlm.nih.gov
Congenital cataract is a rare eye disease, one of the leading treatable causes of low vision
in children worldwide. Hereditary cataracts can be divided in syndromic and non-syndromic …

[HTML][HTML] Congenital cataract and its genetics: the era of next-generation sequencing

HT Şekeroğlu, GE Utine - Turkish Journal of Ophthalmology, 2021 - ncbi.nlm.nih.gov
Congenital cataract is a challenging ophthalmological disorder which can cause severe
visual loss. It can be diagnosed at birth or during the first year of life. Early diagnosis and …

Bi-allelic loss-of-function variants in DNMBP cause infantile cataracts

M Ansar, H Chung, RL Taylor, A Nazir, S Imtiaz… - The American Journal of …, 2018 - cell.com
Infantile and childhood-onset cataracts form a heterogeneous group of disorders; among the
many genetic causes, numerous pathogenic variants in additional genes associated with …

Next generation sequencing‐based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes

MC Astiazarán, LA García‐Montaño… - American journal of …, 2018 - Wiley Online Library
Congenital cataract (CC) is a significant cause of childhood blindness worldwide. CC is a
genetically heterogeneous disease because mutations in over 40 genes have been …

GJA8 missense mutation disrupts hemichannels and induces cell apoptosis in human lens epithelial cells

L Li, DB Fan, YT Zhao, Y Li, ZB Yang, GY Zheng - Scientific reports, 2019 - nature.com
Autosomal dominant congenital cataract (ADCC), the most common hereditary disease, is a
major cause of eye disease in children. Due to its high genetic and clinical heterogeneity …

Molecular etiology of isolated congenital cataract using next-generation sequencing: single center exome sequencing data from Turkey

H Taylan Sekeroglu, B Karaosmanoglu… - Molecular …, 2020 - karger.com
Congenital cataract, which refers to lenticular opacity diagnosed at birth or more commonly
during the first year of life, is one of the leading causes of childhood blindness. Molecular …

Leucocorias e seus diagnósticos diferenciais: Um relato de caso

H Borges, JM Ferreira - Revista da Faculdade de Medicina …, 2020 - revista.unifeso.edu.br
Introdução: A leucocoria se define pelo reflexo pupilar branco, róseo ou amarelo
esbranquiçado evidenciado no teste de Bruckner, que deve ser realizado ao nascimento e …

Evaluating gap junction variants for a role in pediatric cataract: an overview of the genetic landscape and clinical classification of variants in the GJA3 and GJA8 …

JL Jones, KP Burdon - Expert Review of Ophthalmology, 2023 - Taylor & Francis
Introduction Variants in the two lens-expressed gap junction genes GJA3 and GJA8 are
among the most common causes of inherited pediatric cataract. These two genes alone …