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.

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.

Last Updated: 15 Feb 2013

View Details
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.

Last Updated: 22 Sep 2015

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 "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

View Details
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.

http://www.blindness.org

Last Updated: 22 Sep 2015

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 "Choroideremia" returned 49 free, full-text research articles on human participants. First 3 results:

Visual Acuity after Retinal Gene Therapy for Choroideremia.
 

Author(s): Thomas L Edwards, Jasleen K Jolly, Markus Groppe, Alun R Barnard, Charles L Cottriall, Tanya Tolmachova, Graeme C Black, Andrew R Webster, Andrew J Lotery, Graham E Holder, Kanmin Xue, Susan M Downes, Matthew P Simunovic, Miguel C Seabra, Robert E MacLaren

Journal: N. Engl. J. Med.. 2016 May;374(20):1996-8.

 

Last Updated: 19 May 2016

Go To URL
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.
 

Author(s): Rocio Sanchez-Alcudia, Maria Garcia-Hoyos, Miguel Angel Lopez-Martinez, Noelia Sanchez-Bolivar, Olga Zurita, Ascension Gimenez, Cristina Villaverde, Luciana Rodrigues-Jacy da Silva, Marta Corton, Raquel Perez-Carro, Simona Torriano, Vasiliki Kalatzis, Carlo Rivolta, Almudena Avila-Fernandez, Isabel Lorda, Maria J Trujillo-Tiebas, Blanca Garcia-Sandoval, Maria Isabel Lopez-Molina, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez, Carmen Ayuso

Journal:

 

Choroideremia (CHM) is a rare X-linked disease leading to progressive retinal degeneration resulting in blindness. The disorder is caused by mutations in the CHM gene encoding REP-1 protein, an essential component of the Rab geranylgeranyltransferase (GGTase) complex. In the present ...

Last Updated: 13 Apr 2016

Go To URL
Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities.
 

Author(s): Alice Yang Zhang, Naveen Mysore, Hojatollah Vali, Jamie Koenekoop, Sang Ni Cao, Shen Li, Huanan Ren, Vafa Keser, Irma Lopez-Solache, Sorath Noorani Siddiqui, Ayesha Khan, Jeannie Mui, Kelly Sears, Jim Dixon, Jeremy Schwartzentruber, Jacek Majewski, Nancy Braverman, Robert K Koenekoop

Journal: Invest. Ophthalmol. Vis. Sci.. 2015 Dec;56(13):8158-65.

 

Photoreceptor neuronal degenerations are common, incurable causes of human blindness affecting 1 in 2000 patients worldwide. Only half of all patients are associated with known mutations in over 250 disease genes, prompting our research program to identify the remaining new genes. ...

Last Updated: 1 Jan 2016

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 "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

Go To URL
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

Go To URL
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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

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

 
 
Top

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

Go to URL
REP1 Gene Replacement Therapy
 

Status: Not yet recruiting

Condition Summary: Choroideremia

 

Last Updated: 30 Mar 2015

Go to URL
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

Go to URL