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

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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Adeno-associated virus 8-mediated gene therapy for choroideremia: preclinical studies in in vitro and in vivo models.
 

Author(s): Aaron Black, Vidyullatha Vasireddy, Daniel C Chung, Albert M Maguire, Rajashekhar Gaddameedi, Tania Tolmachova, Miguel Seabra, Jean Bennett

Journal: J Gene Med. ;16(5-6):122-30.

 

Choroideremia (CHM) is a slowly progressive X-linked retinal degeneration that results in a loss of photoreceptors, retinal pigment epithelium and choroid. CHM, the gene implicated in choroideremia, encodes Rab escort protein-1 (REP-1), which is involved in the post-translational ...

Last Updated: 22 Jul 2014

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Molecular genetic diagnostic techniques in choroideremia.
 

Author(s): Mira J B Furgoch, Jacqueline Mewes-Arès, Alina Radziwon, Ian M Macdonald

Journal:

 

To optimize and streamline molecular genetics techniques in diagnosing choroideremia (CHM).

Last Updated: 5 May 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 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

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: 14 Jan 2015

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Gene Therapy for Blindness Caused by Choroideremia
 

Status: Recruiting

Condition Summary: Choroideremia

 

Last Updated: 5 Mar 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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