X-linked juvenile retinoschisis

Common Name(s)

X-linked juvenile retinoschisis, Juvenile retinoschisis

X-linked juvenile retinoschisis is a genetic eye disorder that causes vision loss in childhood that gets worse over time (progressive). X-linked juvenile retinoschisis is a form of macular degeneration, which is a condition that affects the part of the back of the eye (retina) that is important for detailed vision (macula). Symptoms of X-linked juvenile retinoschisis may vary, but the first sign is usually poor vision in school and trouble seeing words while reading. The poor vision progresses through teenage years, becomes stable during adulthood, and then significantly declines in a person’s fifties or sixties. Far-sightedness (hyperopia) and eyes that look in different directions (strabismus) are also quite common in affected individuals. Squinting and involuntary eye movements (nystagmus) can occur in infants with severe cases of the condition.

The disorder is caused by a change (mutation) in the RS1 gene and is inherited in an X-linked recessive way, which means it mostly affects men. Males have one X chromosome (one copy of the RS1 gene) and females have two X chromosomes (two copies of the RS1 gene). If a male has a mutation in his only copy of the gene, he does not have a working copy, causing the condition. If a female has a mutation in one of her two copies of her RS1 gene, she still has a working copy and will not show signs of the condition.

X-linked juvenile retinoschisis is usually diagnosed by an eye doctor (ophthalmologist) using a detailed eye and retinal exam. The diagnosis can be confirmed with genetic testing. There is no cure for X-linked juvenile retinoschisis. If your child has been diagnosed with this condition, talk with their doctor about all current treatment options. Support groups can provide additional information and connect you with other families affected by juvenile-onset blindness.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "X-linked juvenile retinoschisis" for support, advocacy or research.

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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.

Last Updated: 3 Nov 2012

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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.

Last Updated: 2 Aug 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "X-linked 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

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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

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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 "X-linked juvenile retinoschisis" returned 23 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

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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

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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

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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 "X-linked 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

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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: 11 Nov 2014

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Clinical Evaluation of Patients With X-linked Retinoschisis
 

Status: Recruiting

Condition Summary: X-linked Retinoschisis (XLRS)

 

Last Updated: 2 Jan 2015

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Safety and Efficacy of rAAV-hRS1 in Patients With X-linked Retinoschisis (XLRS)
 

Status: Recruiting

Condition Summary: X-linked Retinoschisis

 

Last Updated: 16 Jul 2015

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