Articles with "congenital cataract" as a keyword



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Incidence of posterior vitreous detachment after congenital cataract surgery: an ultrasound evaluation

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Published in 2020 at "Graefe's Archive for Clinical and Experimental Ophthalmology"

DOI: 10.1007/s00417-020-04997-x

Abstract: To investigate the incidence of developing posterior vitreous detachment (PVD) in children after congenital cataract surgery. This is a prospective study which recruited 131 children with congenital cataracts who underwent cataract surgery between June 1,… read more here.

Keywords: congenital cataract; iol implantation; surgery; cataract surgery ... See more keywords

Acute angle closure in an aphakic infant: Case report and review of the literature

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Published in 2019 at "American Journal of Ophthalmology Case Reports"

DOI: 10.1016/j.ajoc.2019.100459

Abstract: Purpose Aphakic pupillary block glaucoma is a rare complication after congenital cataract surgery. We describe the case of an infant with acute angle closure in an aphakic eye following congenital cataract lensectomy with anterior vitrectomy… read more here.

Keywords: congenital cataract; closure aphakic; case; acute angle ... See more keywords

Identification and preliminary functional analysis of two novel congenital cataract associated mutations of Cx46 and Cx50

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Published in 2019 at "Ophthalmic Genetics"

DOI: 10.1080/13816810.2019.1675179

Abstract: ABSTRACT Background: Congenital cataract is a significant cause of visual impairment and blindness. The present study examined the disease-causing mutations in three Chinese families with autosomal dominant congenital cataract (ADCC) to provide the preliminary evidence… read more here.

Keywords: congenital cataract; microscopy; analysis; family ... See more keywords
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Identification of GJA3 p.S50P Mutation in a Chinese Family with Autosomal Dominant Congenital Cataract and Its Underlying Pathogenesis.

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Published in 2020 at "DNA and cell biology"

DOI: 10.1089/dna.2020.5605

Abstract: Congenital cataract refers to a lens opacity caused by multiple etiological factors, including genetic mutation, abnormal metabolism of the lens, and infection. Currently, there are >100 known disease-causing genes as well as 60 known mutations… read more here.

Keywords: congenital cataract; gja3; s50p; family ... See more keywords
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Comparative analysis of visual outcomes of multifocal and monofocal intraocular lenses in congenital cataract surgery.

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Published in 2021 at "Journal of cataract and refractive surgery"

DOI: 10.1097/j.jcrs.0000000000000705

Abstract: PURPOSE To assess the impact on visual development of multifocal versus monofocal intraocular lenses (IOLs) implantation in children following congenital cataract surgery. DESIGN Retrospective interventional consecutive case series. METHODS We reviewed the records of 56… read more here.

Keywords: congenital cataract; surgery; monofocal intraocular; group ... See more keywords

A de novo variant in the bovine ADAMTSL4 gene in an Original Braunvieh calf with congenital cataract

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Published in 2022 at "Animal Genetics"

DOI: 10.1111/age.13178

Abstract: Abstract Inherited forms of cataract are a heterogeneous group of eye disorders known in livestock species. Clinicopathological analysis of a single case of impaired vision in a newborn Original Braunvieh calf revealed nuclear cataract. Whole‐genome… read more here.

Keywords: cataract; adamtsl4 gene; congenital cataract; original braunvieh ... See more keywords

Association of strabismus and congenital cataract in a 2‐year‐old girl

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Published in 2025 at "Acta Ophthalmologica"

DOI: 10.1111/aos.17167

Abstract: Aims/Purpose: The objective of this study is to evaluate the clinical case of a 2‐year‐old girl referred from pediatrics due to an asymmetric Hirschberg test, analyze the diagnostic findings, and describe the management of her… read more here.

Keywords: history; strabismus congenital; old girl; congenital cataract ... See more keywords

Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract

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Published in 2024 at "Clinical Genetics"

DOI: 10.1111/cge.14568

Abstract: The current genetic diagnostic workup of congenital cataract (CC) is mainly based on NGS panels, whereas exome sequencing (ES) has occasionally been employed. In this multicentre study, we investigated by ES the detection yield, mutational… read more here.

Keywords: phenotype correlations; cohort; genotype phenotype; congenital cataract ... See more keywords

Management of Aphakia with Visual Axis Opacification after Congenital Cataract Surgery Based on UBM Image Features Analysis

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Published in 2020 at "Journal of Ophthalmology"

DOI: 10.1155/2020/9489450

Abstract: Objective The purpose of this study was to study the imaging features of ultrasound biomicroscopy (UBM) in the aphakia with visual axis opacification (VAO) after congenital cataract surgery. Methods From May 2015 to May 2018,… read more here.

Keywords: congenital cataract; surgery; imaging features; vao ... See more keywords

Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing

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Published in 2017 at "PLoS ONE"

DOI: 10.1371/journal.pone.0184440

Abstract: Autosomal dominant congenital cataract (ADCC) is a clinically and genetically heterogeneous ocular disease in children that results in serious visual impairments or even blindness. Targeted exome sequencing (TES) is an efficient method used for genetic… read more here.

Keywords: congenital cataract; gja3; exome sequencing; chinese family ... See more keywords

Novel mutations in CRYBB1/CRYBB2 identified by targeted exome sequencing in Chinese families with congenital cataract.

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Published in 2018 at "International journal of ophthalmology"

DOI: 10.18240/ijo.2018.10.01

Abstract: AIM To summarize the phenotypes and identify the underlying genetic cause of the CRYBB1 and CRYBB2 gene responsible for congenital cataract in two Chinese families. METHODS Detailed family histories and clinical data were collected from… read more here.

Keywords: congenital cataract; mutation; crybb1 crybb2; family ... See more keywords