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.

Source: Advocacy organizations associated with the condition.

 

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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 44 free, full-text research articles on human participants. First 3 results:

A novel 3-base pair deletion of the CRYAA gene identified in a large Chinese pedigree featuring autosomal dominant congenital perinuclear cataract.
 

Author(s): X D Kong, N Liu, H R Shi, J M Dong, Z H Zhao, J Liu, J Li-Ling, Y X Yang

Journal:

 

Congenital cataract is caused by reduced transparency of the lens resulting from metabolic disorders during the fetal period. The disease shows great heterogeneity both clinically and genetically. We identified a 4-generation ethnic Han Chinese family affected by autosomal dominant ...

Last Updated: 3 Mar 2015

Go To URL
A novel GJA8 mutation (p.V44A) causing autosomal dominant congenital cataract.
 

Author(s): Yanan Zhu, Hao Yu, Wei Wang, Xiaohua Gong, Ke Yao

Journal:

 

To examine the mechanism by which a novel connexin 50 (Cx50) mutation, Cx50 V44A, in a Chinese family causes suture-sparing autosomal dominant congenital nuclear cataracts.

Last Updated: 18 Dec 2014

Go To URL
Rapid and cost-effective molecular diagnosis using exome sequencing of one proband with autosomal dominant congenital cataract.
 

Author(s): J-H Chen, J Qiu, H Chen, C P Pang, M Zhang

Journal: Eye (Lond). 2014 Dec;28(12):1511-6.

 

Due to high genetic heterogeneity, to exclude known mutations and map novel mutations in autosomal dominant congenital cataract (ADCC) using conventional candidate gene screening requires laborious laboratory work. We attempted to use a cost-effective exome sequencing strategy to ...

Last Updated: 16 Dec 2014

Go To URL

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.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.