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: 22 Sep 2015

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General Support Organizations

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How do you compare to others with this condition?

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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.

http://www.blindness.org

Last Updated: 22 Sep 2015

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

Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa.
 

Author(s): Hui Guo, Jisheng Li, Fei Gao, Jiangxia Li, Xinyi Wu, Qiji Liu

Journal:

 

Genomic mutations in about 200 genes are associated with hereditary retinal diseases. In this study, we screened for the disease-causing gene mutation in a family with X-linked retinal degenerative disease.

Last Updated: 28 Jul 2015

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Outcomes following cataract surgery in choroideremia.
 

Author(s): T L Edwards, M Groppe, R E MacLaren

Journal: Eye (Lond). 2015 Apr;29(4):460-4.

 

PurposeTo present a case series of cataract surgery outcomes in choroideremia eyes with an emphasis on the safety of this common operation in advanced stages of the disease.MethodsA single centre retrospective interventional case series comprising six patients with varying degrees ...

Last Updated: 10 Apr 2015

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High-resolution adaptive optics retinal imaging of cellular structure in choroideremia.
 

Author(s): Jessica I W Morgan, Grace Han, Eva Klinman, William M Maguire, Daniel C Chung, Albert M Maguire, Jean Bennett

Journal:

 

We characterized retinal structure in patients and carriers of choroideremia using adaptive optics and other high resolution modalities.

Last Updated: 11 Oct 2014

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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 3 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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Organization of the Rab-GDI/CHM superfamily: the functional basis for choroideremia disease.
 

Author(s): C Alory, W E Balch

Journal: Traffic. 2001 Aug;2(8):532-43.

 

Choroideremia is an X-chromosome-linked disease that leads to the degeneration of the choriocapillaris, the retinal pigment epithelium and the photoreceptor layer in the eye. The gene product defective in choroideremia, CHM, is identical to Rab escort protein 1 (REP1). CHM/REP1 is ...

Last Updated: 7 Aug 2001

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Safety and Dose Escalation Study of AAV2-hCHM in Subjects With CHM (Choroideremia) Gene Mutations
 

Status: Recruiting

Condition Summary: Choroideremia; CHM (Choroideremia) Gene Mutations

 

Last Updated: 6 Dec 2015

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REP1 Gene Replacement Therapy
 

Status: Not yet recruiting

Condition Summary: Choroideremia

 

Last Updated: 30 Mar 2015

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Inherited Retinal Degenerative Disease Registry
 

Status: Recruiting

Condition Summary: Eye Diseases Hereditary; Retinal Disease; Achromatopsia; Bardet-Biedl Syndrome; Bassen-Kornzweig Syndrome; Batten Disease; Best Disease; Choroidal Dystrophy; Choroideremia; Cone Dystrophy; Cone-Rod Dystrophy; Congenital Stationary Night Blindness; Enhanced S-Cone Syndrome; Fundus Albipunctatus; Goldmann-Favre Syndrome; Gyrate Atrophy; Juvenile Macular Degeneration; Kearns-Sayre Syndrome; Leber Congenital Amaurosis; Refsum Syndrome; Retinitis Pigmentosa; Retinitis Punctata Albescens; Retinoschisis; Rod-Cone Dystrophy; Rod Dystrophy; Rod Monochromacy; Stargardt Disease; Usher Syndrome

 

Last Updated: 21 Mar 2016

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