Cataract Congenital Autosomal Dominant

Common Name(s)

Cataract Congenital Autosomal Dominant

Congenital cataracts is a condition in which an individual is born with clouding of the lens of the eye, impairing vision. The lens is a clear structure within the eye which people see through and that helps to focus light. Seeing with cataracts is much like seeing through a foggy window. Autosomal dominant congenital cataracts is due to a genetic condition that is inherited from parents. In autosomal dominant congenital cataracts, a parent that was born with this condition typically has at least a 50% chance of having a child born with this condition. It is estimated that congenital cataracts are responsible for 5-20% of blindness in children worldwide, and in the US, about 3-4 children are born with congenital cataracts per 10,000 births. In autosomal dominant congenital cataracts, there is usually a family history which can aid in diagnosis. This condition must be corrected with surgery usually within the first two months of life.

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Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cataract Congenital Autosomal Dominant" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cataract Congenital Autosomal Dominant" returned 46 free, full-text research articles on human participants. First 3 results:

A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family.
 

Author(s): Xin-Yi Xia, Na Li, Xiang Cao, Qiu-Yue Wu, Tian-Fu Li, Cui Zhang, Wei-Wei Li, Ying-Xia Cui, Xiao-Jun Li, Chun-Yan Xue

Journal:

 

Almost one-third of congenital cataracts are primarily autosomal dominant disorders, which are also called autosomal dominant congenital cataract, resulting in blindness and clouding of the lens. The purpose of this study was to identify the disease-causing mutation in a Chinese family ...

Last Updated: 3 Sep 2014

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Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.
 

Author(s): Hannah Verdin, Elena A Sorokina, Fran├žoise Meire, Ingele Casteels, Thomy de Ravel, Elena V Semina, Elfride De Baere

Journal:

 

Congenital cataracts are clinically and genetically heterogeneous with more than 45 known loci and 38 identified genes. They can occur as isolated defects or in association with anterior segment developmental anomalies. One of the disease genes for congenital cataract with or without ...

Last Updated: 28 Feb 2014

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A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family.
 

Author(s): Han Wang, Tianxiao Zhang, Di Wu, Jinsong Zhang

Journal:

 

To identify the disease-causing mutation in a five-generation Chinese family affected with bilateral congenital nuclear cataract.

Last Updated: 31 Dec 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cataract Congenital Autosomal Dominant" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.