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 …

Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia

J Plaisancié, F Ceroni, R Holt, C Zazo Seco, P Calvas… - Human Genetics, 2019 - Springer
Eye formation is the result of coordinated induction and differentiation processes during
embryogenesis. Disruption of any one of these events has the potential to cause ocular …

Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects

D Anand, SA Agrawal, A Slavotinek… - Human mutation, 2018 - Wiley Online Library
Mutations in the transcription factor genes FOXE3, HSF4, MAF, and PITX3 cause congenital
lens defects including cataracts that may be accompanied by defects in other components of …

Phenotype–genotype correlations and emerging pathways in ocular anterior segment dysgenesis

AS Ma, JR Grigg, RV Jamieson - Human Genetics, 2019 - Springer
Disorders of the anterior segment of the eye encompass a variety of clinical presentations
including aniridia, Axenfeld and Rieger anomalies, primary congenital glaucoma, Peters …

Pitx genes in development and disease

TQ Tran, C Kioussi - Cellular and Molecular Life Sciences, 2021 - Springer
Homeobox genes encode sequence-specific transcription factors (SSTFs) that recognize
specific DNA sequences and regulate organogenesis in all eukaryotes. They are essential …

Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes

LM Reis, EV Semina - Human genetics, 2019 - Springer
Pediatric cataract represents an important cause of pediatric visual impairment. While both
genetic and environmental causes for pediatric cataract are known, a large proportion …

Screening, genetics, risk factors, and treatment of neonatal cataracts

J Li, C Xia, E Wang, K Yao, X Gong - Birth defects research, 2017 - Wiley Online Library
Neonatal cataracts remain the most common cause of visual loss in children worldwide and
have diverse, often unknown, etiologies. This review summarizes current knowledge about …

PITX3 mutations associated with autosomal dominant congenital cataract in the Chinese population

Z Wu, D Meng, C Fang, J Li… - Molecular …, 2019 - spandidos-publications.com
The present study aimed to identify the disease‑causing gene of a four‑generation Chinese
family affected with congenital posterior subcapsular cataracts (CPSC), to additionally …

Unilateral buphthalmos, corneal staphyloma and corneal fistula caused by pathogenic variant in the PITX3 gene: a case report

L Zhou, Z Xu, Q Wu, X Wei - BMC ophthalmology, 2022 - Springer
Introduction PITX3 has been reported to be associated with congenital cataracts, anterior
segment mesenchymal dysgenesis, Peters' anomaly, and microphthalmia. In this case, an …

A novel missense mutation of CRYBA1 in a northern Chinese family with inherited coronary cataract with blue punctate opacities

SH Ni, JM Zhang, J Zhao - European Journal of …, 2022 - journals.sagepub.com
Purpose: To demonstrate the underlying genetic defect that contribute to inherited cataract in
a northern Chinese pedigree. Methods: The study recruited a family pedigree with a …