Choroideremia

Common Name(s)

Choroideremia

Choroideremia is a genetic condition characterized by progressive vision loss that mainly affects males. Signs and symptoms of this condition include night blindness, progressive narrowing of the field of vision (tunnel vision), and a decrease in the ability to see details (visual acuity). These vision problems are due to an ongoing loss of cells in the retina and choroid. The vision impairments get progressively worse and usually lead to blindness typically in late adulthood. Choroideremia is caused by mutations in the CHM gene and is inherited in an X-linked recessive pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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Choroideremia Research Foundation, Inc.

To raise funds in support of scientific research leading to a treatment or cure for Choroideremia, a hereditary retinal-degenerative disease that causes blindness; to educate people affected by the disease; and to inform the public.

Last Updated: 15 Feb 2013

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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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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Logo
Choroideremia Research Foundation, Inc.

To raise funds in support of scientific research leading to a treatment or cure for Choroideremia, a hereditary retinal-degenerative disease that causes blindness; to educate people affected by the disease; and to inform the public.

http://www.choroideremia.org

Last Updated: 15 Feb 2013

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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.

https://www.fightblindness.org

Last Updated: 3 Nov 2012

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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 "Choroideremia" returned 39 free, full-text research articles on human participants. First 3 results:

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.
 

Author(s): Robert E MacLaren, Markus Groppe, Alun R Barnard, Charles L Cottriall, Tanya Tolmachova, Len Seymour, K Reed Clark, Matthew J During, Frans P M Cremers, Graeme C M Black, Andrew J Lotery, Susan M Downes, Andrew R Webster, Miguel C Seabra

Journal: Lancet. 2014 Mar;383(9923):1129-37.

 

Choroideremia is an X-linked recessive disease that leads to blindness due to mutations in the CHM gene, which encodes the Rab escort protein 1 (REP1). We assessed the effects of retinal gene therapy with an adeno-associated viral (AAV) vector encoding REP1 (AAV.REP1) in patients with this disease.

Last Updated: 31 Mar 2014

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Functional expression of Rab escort protein 1 following AAV2-mediated gene delivery in the retina of choroideremia mice and human cells ex vivo.
 

Author(s): Tanya Tolmachova, Oleg E Tolmachov, Alun R Barnard, Samantha R de Silva, Daniel M Lipinski, Nathan J Walker, Robert E Maclaren, Miguel C Seabra

Journal: J. Mol. Med.. 2013 Jul;91(7):825-37.

 

Choroideremia (CHM) is an X-linked retinal degeneration of photoreceptors, the retinal pigment epithelium (RPE) and choroid caused by loss of function mutations in the CHM/REP1 gene that encodes Rab escort protein 1. As a slowly progressing monogenic retinal degeneration with a clearly ...

Last Updated: 1 Jul 2013

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AAV-mediated gene therapy for choroideremia: preclinical studies in personalized models.
 

Author(s): Vidyullatha Vasireddy, Jason A Mills, Rajashekhar Gaddameedi, Etiena Basner-Tschakarjan, Monika Kohnke, Aaron D Black, Krill Alexandrov, Shangzhen Zhou, Albert M Maguire, Daniel C Chung, Helen Mac, Lisa Sullivan, Paul Gadue, Jeannette L Bennicelli, Deborah L French, Jean Bennett

Journal:

 

Choroideremia (CHM) is an X- linked retinal degeneration that is symptomatic in the 1(st) or 2(nd) decade of life causing nyctalopia and loss of peripheral vision. The disease progresses through mid-life, when most patients become blind. CHM is a favorable target for gene augmentation ...

Last Updated: 13 May 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 "Choroideremia" returned 2 free, full-text review articles on human participants. First 3 results:

Choroideremia: new findings from ocular pathology and review of recent literature.
 

Author(s): Ian M MacDonald, Laurie Russell, Chi-Chao Chan

Journal: Surv Ophthalmol. ;54(3):401-7.

 

Histopathology of young individuals affected by choroideremia is rarely available to allow correlation with the clinical presentation. A 30-year-old man with choroideremia died in a motor vehicle accident and one eye was subjected to histopathological examination. Immunoblot analysis ...

Last Updated: 8 May 2009

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A case of choroideremia with recurrent anterior uveitis.
 

Author(s): Sung Ji O, Seon Hee Kim, Hae Young Lee

Journal: Korean J Ophthalmol. 2003 Jun;17(1):55-62.

 

Choroideremia is a rare hereditary disease with characteristic fundus that causes night blindness and peripheral visual field loss. The authors encounter choroideremia accompanied by recurrent uveitis. This paper is designed to give a description of the condition, along with an investigation ...

Last Updated: 28 Jul 2003

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Clinical Trial Information This information is provided by ClinicalTrials.gov

An Open Label Clinical Trial of Retinal Gene Therapy for Choroideremia
 

Status: Not yet recruiting

Condition Summary: Choroideremia

 

Last Updated: 30 Apr 2014

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Gene Therapy for Blindness Caused by Choroideremia
 

Status: Recruiting

Condition Summary: Choroideremia

 

Last Updated: 24 Jun 2014

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The Short-term Effects of Simvastatin on the Vision of Males Affected by Choroideremia
 

Status: Not yet recruiting

Condition Summary: Choroideremia

 

Last Updated: 7 Nov 2012

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