Juvenile retinoschisis

Common Name(s)

Juvenile retinoschisis

Juvenile retinoschisis is an eye condition that begins to affect vision before age 10. This condition occurs almost exclusively in males. Vision often deteriorates early in life, but then usually becomes stable until late adulthood. Juvenile retinoschisis is caused by mutations in the RS1 gene, and this condition is inherited in an X-linked recessive pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Juvenile retinoschisis" for support, advocacy or research.

Logo
Foundation Fighting Blindness

The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments, and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and the entire spectrum of retinal degenerative diseases.

https://www.fightblindness.org

Last Updated: 3 Nov 2012

View Details
Isabella's Aviary Alliance, LLC

Isabella’s Aviary Alliance, LLC actively demonstrates, through Isabella’s passionate and loving care in breeding and raising baby parrots for other special needs children, the possibility for two hearts—bird and child—coming together and connecting in a way which infinitely brightens the lives of both.

http://www.isabellasaviary.com

Last Updated: 2 Aug 2013

View Details

 

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 "Juvenile retinoschisis" for support, advocacy or research.

Logo
Foundation Fighting Blindness

The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments, and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and the entire spectrum of retinal degenerative diseases.

https://www.fightblindness.org

Last Updated: 3 Nov 2012

View Details
Isabella's Aviary Alliance, LLC

Isabella’s Aviary Alliance, LLC actively demonstrates, through Isabella’s passionate and loving care in breeding and raising baby parrots for other special needs children, the possibility for two hearts—bird and child—coming together and connecting in a way which infinitely brightens the lives of both.

http://www.isabellasaviary.com

Last Updated: 2 Aug 2013

View Details

 

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 "Juvenile retinoschisis" returned 34 free, full-text research articles on human participants. First 3 results:

Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis.
 

Author(s): Leera D'Souza, Catherine Cukras, Christian Antolik, Candice Craig, Ji-Yun Lee, Hong He, Shibo Li, Nizar Smaoui, James F Hejtmancik, Paul A Sieving, Xinjing Wang

Journal:

 

X-linked juvenile retinoschisis (XLRS) is a vitreoretinal dystrophy characterized by schisis (splitting) of the inner layers of the neuroretina. Mutations within the retinoschisis (RS1) gene are responsible for this disease. The mutation spectrum consists of amino acid substitutions, ...

Last Updated: 14 Nov 2013

Go To URL
Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis.
 

Author(s): Anna Skorczyk, Maciej R Krawczyński

Journal: Mol. Vis.. 2012 ;18():3004-12.

 

To determine the clinical features and to identify mutations in the retinoschisis gene (RS1) in ten patients with X-linked retinoschisis (XLRS).

Last Updated: 4 Jan 2013

Go To URL
Novel RS1 mutations associated with X-linked juvenile retinoschisis.
 

Author(s): Junhui Yi, Shiqiang Li, Xiaoyun Jia, Xueshan Xiao, Panfeng Wang, Xiangming Guo, Qingjiong Zhang

Journal: Int. J. Mol. Med.. 2012 Apr;29(4):644-8.

 

To identify mutations in the retinoschisin (RS1) gene in families with X-linked retinoschisis (XLRS). Twenty families with XLRS were enrolled in this study. All six coding exons and adjacent intronic regions of RS1 were amplified by polymerase chain reaction (PCR). The nucleotide ...

Last Updated: 6 Feb 2012

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 "Juvenile retinoschisis" returned 1 free, full-text review articles on human participants. First 3 results:

X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.
 

Author(s): Robert S Molday, Ulrich Kellner, Bernhard H F Weber

Journal: Prog Retin Eye Res. 2012 May;31(3):195-212.

 

X-linked juvenile retinoschisis (XLRS, MIM 312700) is a common early onset macular degeneration in males characterized by mild to severe loss in visual acuity, splitting of retinal layers, and a reduction in the b-wave of the electroretinogram (ERG). The RS1 gene (MIM 300839) associated ...

Last Updated: 23 Apr 2012

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical and Genetic Studies of X-Linked Juvenile Retinoschisis
 

Status: Recruiting

Condition Summary: Retinoschisis

 

Last Updated: 14 Mar 2014

Go to URL
Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration
 

Status: Recruiting

Condition Summary: Juvenile X-Linked Retinoschisis

 

Last Updated: 14 Jul 2008

Go to URL