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   Articles with "congenital cataracts" as a keyword



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Genome sequencing in congenital cataracts improves diagnostic yield

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recommendations! Published in 2021 at "Human Mutation"

DOI: 10.1002/humu.24240

Abstract: Congenital cataracts are one of the major causes of childhood‐onset blindness around the world. Genetic diagnosis provides benefits through avoidance of unnecessary tests, surveillance of extraocular features, and genetic family information. In this study, we… read more here.

Keywords: genome sequencing; diagnostic yield; congenital cataracts; sequencing congenital ... See more keywords
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Pyridoxine‐Dependent Epilepsy: A Treatable Epilepsy Syndrome Presenting with Dystonia and Congenital Cataracts with a Novel Mutation

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recommendations! Published in 2022 at "Movement Disorders Clinical Practice"

DOI: 10.1002/mdc3.13651

Abstract: Pyridoxine-dependent epilepsy (PDE; MIM#266100), an early-onset epileptic encephalopathy, is an autosomal recessive inborn error of pyridoxine (vitamin B6) metabolism. PDE is due to mutations in the ALDH7A1 gene (MIM*107323) on chromo-some 5q31, fi rst described… read more here.

Keywords: dependent epilepsy; congenital cataracts; pde; epilepsy ... See more keywords
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Development of a potent embryonic chick lens model for studying congenital cataracts in vivo

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recommendations! Published in 2021 at "Communications Biology"

DOI: 10.1038/s42003-021-01849-0

Abstract: Congenital cataracts are associated with gene mutations, yet the underlying mechanism remains largely unknown. Here we reported an embryonic chick lens model that closely recapitulates the process of cataract formation. We adopted dominant-negative site mutations… read more here.

Keywords: embryonic chick; chick lens; congenital cataracts; lens model ... See more keywords
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Retinal Findings in Haemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC): Case Report and Review

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recommendations! Published in 2022 at "Neuro-Ophthalmology"

DOI: 10.1080/01658107.2022.2072517

Abstract: ABSTRACT We describe a child from a consanguineous family born with a rare autosomal recessive disorder affecting junctional adhesion molecule 3 (JAM3) causing profound neurological and ophthalmological injury known as haemorrhagic brain destruction, subependymal calcifications,… read more here.

Keywords: brain; cataracts hdbscc; congenital cataracts; poor vision ... See more keywords
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Clinical features of strabismus and nystagmus in bilateral congenital cataracts.

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recommendations! Published in 2018 at "International journal of ophthalmology"

DOI: 10.18240/ijo.2018.05.16

Abstract: AIM To evaluate the prevalence, clinical features, and the factors affecting onset of strabismus and nystagmus in patients with bilateral congenital cataracts. METHODS This study evaluated 116 eyes of 58 patients who underwent lens removal… read more here.

Keywords: strabismus; congenital cataracts; clinical features; nystagmus common ... See more keywords
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Insight into Pathogenic Mechanism Underlying the Hereditary Cataract Caused by βB2-G149V Mutation

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recommendations! Published in 2023 at "Biomolecules"

DOI: 10.3390/biom13050864

Abstract: Congenital cataracts account for approximately 5–20% of childhood blindness worldwide and 22–30% of childhood blindness in developing countries. Genetic disorders are the primary cause of congenital cataracts. In this work, we investigated the underlying molecular… read more here.

Keywords: crystallin; g149v mutation; congenital cataracts; mechanism ... See more keywords
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Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish Families

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recommendations! Published in 2021 at "Genes"

DOI: 10.3390/genes12040580

Abstract: Our purpose was to identify mutations responsible for non-syndromic congenital cataracts through the implementation of next-generation sequencing (NGS) in our center. A sample of peripheral blood was obtained from probands and willing family members and… read more here.

Keywords: congenital cataracts; genetic mechanism; syndromic congenital; molecular genetic ... See more keywords
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Anterior Umbilication of Lens in a Family with Congenital Cataracts Associated with a Missense Mutation of MIP Gene

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recommendations! Published in 2022 at "Genes"

DOI: 10.3390/genes13111987

Abstract: Congenital cataracts (CCs) have significant genotypic and phenotypic heterogeneity. The major intrinsic protein (MIP) gene, one of the causative genes of CCs, plays a vital role in maintaining the homeostasis and transparency of the lens.… read more here.

Keywords: anterior umbilication; umbilication lens; congenital cataracts; mip gene ... See more keywords
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EPHA2 Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated Families

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recommendations! Published in 2021 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms22042190

Abstract: EPHA2 is a transmembrane tyrosine kinase receptor that, when disrupted, causes congenital and age-related cataracts. Cat-Map reports 22 pathogenic EPHA2 variants associated with congenital cataracts, variable microcornea, and lenticonus, but no previous association with microphthalmia… read more here.

Keywords: microphthalmia congenital; microphthalmia; congenital cataracts; unrelated families ... See more keywords