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

Genetic analysis and clinical phenotype of two Indian families with X-linked choroideremia.
 

Author(s): Rajani Battu, Nallathambi Jeyabalan, Praveen Murthy, Kavita S Reddy, Jan Sag Schouten, Caroll A Webers

Journal: Indian J Ophthalmol. 2016 Dec;64(12):924-929.

 

This study aims to describe the phenotype and genotype of two Indian families affected with X-linked choroideremia (CHM).

Last Updated: 23 Jan 2017

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Diagnosis for choroideremia in a large Chinese pedigree by next‑generation sequencing (NGS) and non‑invasive prenatal testing (NIPT).
 

Author(s): Li Zhu, Jingliang Cheng, Boxu Zhou, Chunli Wei, Weichan Yang, Dong Jiang, Iqra Ijaz, Xiaojun Tan, Rui Chen, Junjiang Fu

Journal: Mol Med Rep. 2017 Mar;15(3):1157-1164.

 

To develop an effective strategy to isolate and use cell‑free fetal DNA (cffDNA) for the combined use of next‑generation sequencing (NGS) for diagnosing choroideremia and non‑invasive prenatal testing (NIPT) for Y chromosome determination, a large Chinese family with an X‑linked ...

Last Updated: 18 Jan 2017

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Optical coherence tomography angiography and fundus autofluorescence in the eyes with choroideremia.
 

Author(s): Maki Kato, Ichiro Maruko, Hideki Koizumi, Tomohiro Iida

Journal:

 

A 65-year-old man with presumed choroideremia with preserved central vision was examined by fundus autofluorescence (FAF) and optical coherence tomography angiography (OCTA). FAF showed an isolated area of hyperautofluorescence that involved the fovea. Although the choroid capillary ...

Last Updated: 7 Jan 2017

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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 4 free, full-text review articles on human participants. First 3 results:

Gene therapy for choroideremia using an adeno-associated viral (AAV) vector.
 

Author(s): Alun R Barnard, Markus Groppe, Robert E MacLaren

Journal:

 

Choroideremia is an outer retinal degeneration with a characteristic clinical appearance that was first described in the nineteenth century. The disorder begins with reduction of night vision and gradually progresses to blindness by middle age. The appearance of the fundus in sufferers ...

Last Updated: 3 Mar 2015

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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

"Natural History" Study of Choroideremia
 

Status: Recruiting

Condition Summary: Choroideremia

 

Last Updated: 16 Jun 2017

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REP1 Gene Replacement Therapy for Choroideremia
 

Status: Recruiting

Condition Summary: Choroideremia

 

Last Updated: 16 Nov 2017

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High Resolution Retinal Imaging
 

Status: Recruiting

Condition Summary: Stargardts; Retinitis Pigmentosa; Age-related Macular Degeneration; Choroideremia; Geographic Atrophy

 

Last Updated: 19 Jun 2017

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