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 …
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 …
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 …
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
Disorders of the anterior segment of the eye encompass a variety of clinical presentations
including aniridia, Axenfeld and Rieger anomalies, primary congenital glaucoma, Peters …
including aniridia, Axenfeld and Rieger anomalies, primary congenital glaucoma, Peters …
Pitx genes in development and disease
Homeobox genes encode sequence-specific transcription factors (SSTFs) that recognize
specific DNA sequences and regulate organogenesis in all eukaryotes. They are essential …
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 …
genetic and environmental causes for pediatric cataract are known, a large proportion …
Screening, genetics, risk factors, and treatment of neonatal cataracts
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 …
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 …
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 …
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 …
a northern Chinese pedigree. Methods: The study recruited a family pedigree with a …