Information on the following diseases can be found in the Related Disorders section of this report:

• X-linked Retinitis Pigmentosa
• Diffuse Choriocapillaris Atrophy
• Gyrate Atrophy of the Choroid and Retina

Choroideremia is characterized by extensive loss of all retinal layers in the eye. This disorder usually begins during childhood with wasting (atrophy) of the pigmented retinal epithelium, retina, and choroid of the eye. The retina is the light-sensitive, most internal surface of the eyeball consisting of many, nerve-containing layers. A layer of single pigmented cells is next outside the retina. The choroid is the next vascular layer (membrane) located outside the retina and inside the "white" section of the eye (sclera). The choroid contains many small branches of vessels called the choriocapillaries.

Degeneration of the vessels of the choroid and functional damage to the retina occur later in life and usually lead to progressive peripheral visual field loss and eventual blindness. The symptoms of Choroideremia may vary greatly between affected individuals. Female carriers usually have very mild symptoms without vision loss.
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Choroideremia is an X-linked recessive genetic condition. X-linked recessive disorders are caused by an abnormal gene on the X chromosome. Females have two X chromosomes but one is ‘turned off’ and all of the genes on that chromosome are inactivated. Females who have a disease gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not show symptoms of the disorder because it is usually the X chromosome with the abnormal gene that is ‘turned off’. Males have one X chromosome and if they inherit an X chromosome that contains a disease gene, they will develop the disease. Males with X-linked disorders pass the disease to all of their daughters, who will be carriers. Males can not pass the X-linked gene to their sons because males always pass their Y chromosome instead of their X chromosome to male offspring. Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease, and a 25% chance to have an unaffected son.

In 1991, Dr. Frans Cremers of the University of Nijmegen in the Netherlands isolated the gene responsible for Choroideremia. The gene makes a protein call Rab escort protein 1. This discovery may lead to a prenatal test and to treatment for the disease.
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Choroideremia affects males. Female carriers are generally asymptomatic. However, a small number of females have developed the disorder as a result of a genetic process that inactivates the normal gene and leaves only the dysfunctional gene active. In the Salla area of northern Finland, an unusually high concentration of cases has occurred, affecting approximately one in forty persons.
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Symptoms of the following disorders can be similar to those of Choroideremia. Comparisons may be useful for a differential diagnosis:

X-linked Retinitis Pigmentosa (RP) is one of a group of inherited vision disorders causing degeneration of the retina. When the retina degenerates, as in RP, the vision decreases and may be lost. X-linked RP is not usually associated with other conditions or illnesses. The X- linked form of RP is passed from a mother (who is a carrier) to a son. The early symptoms include night blindness. This is followed by "tunnel vision" (loss of peripheral vision). The rate and extent of progression of symptoms is extremely variable. (For more information on this disorder, choose "Retinitis Pigmentosa" as your search term in the Rare Disease Database.)

Diffuse Choriocapillaris Atrophy is characterized by degeneration of the choroid of the eye. The choroid is a vascular membrane located between the retina inside the eye and the "white" membrane outside the eye (sclera).

Gyrate Atrophy of the Choroid and Retina is characterized by a circular- patterned degeneration in the choroid and retina of the eye. This disorder of the eye is the direct result of the accumulation of abnormally high levels of the amino acid ornithine.
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Treatment of Choroideremia is symptomatic and supportive. Organizations providing services to sight-impaired people will be of help to patients and their families. Genetic counseling is recommended for families affected by this disorder.


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Studies of families with Choroideremia are underway to determine the gene changes (mutations) responsible for the disorder. There is no common mutation that is found in all cases of choroideremia.

This disease entry is based upon medical information available through March 2000. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
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McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore, MD; Johns Hopkins University Press: Entry Number; 303100: Last Update; 5/1/02, Entry No: 300390; Last Update; 5/1/02.

TEXTBOOKS
Kanski JJ., ed. Clinical Ophthalmology, 4th ed. Woburn, MA: Butterworth-Heinemann; 1999:453-54.

REVIEW ARTICLES
Seabra MC, Mules EH, Hume AN. Rab GTPases, intracellular traffic and disease. Trends Mol Med. 2002;8:23-30.

Alory C, Balch WE. Organization of the Rab-GDI/CHM superfamily: the functional basis of choroideremia disease. Traffic. 2001;2:532-43.

Pereira-Leal JB, Hume AN, Seabra MC. Prenylation of Rab-GTPases: molecular mechanisms and involvement in genetic disease. FEBS Lett. 2001;498:197-200.

JOURNAL ARTICLES
Roberts MF, Fishman GA, Roberts DK, et al. Retrospective, longitudinal, and cross-sectional study of visual acuity impairment in choroideraemia. Br J Ophthalmol. 2002;86:658-62.

Grover S, Alexander KR, Fishman GA, et al. Comparison of intraocular light scatter in carriers of choroideremia and X-linked retinitis pigmentosa. Ophthalmology. 2002;109:159-63.

Laderman DJ, Szlyk JP, Kelsch R, et al. A curriculum for training patients with peripheral visual field loss to use bioptic amorphic lenses. J Rehabil Res Dev. 2000;37:607-19.

Hirakawa H, et al., Progression of defects in the central 10-degree visual field of patients with retinitis pigmentosa and choroideremia. Am J Ophthalmol. 1999;127:436-42.

Majid MA, et al., Unusual macular findings in a known choroideremia carrier. Eye. 1998;12:740-41.

MacDonald IM, et al., A practical diagnostic test for choroideremia. Ophthalmology. 1998;105:1637-40.

MacDonald IM, et al., Histopathology of the retinal pigment epithelium of a female carrier of choroideremia. Can J Ophthalmol. 1997;32:329-33.

Tallman KB, et al., A case study of choroideremia highlighting differential diagnosis and management with Fresnel prism therapy. J Am Optom Assoc. 1996;67:421-29.

FROM THE INTERNET
Choroideremia Research Foundation. Technical Description of Choroideremia, CHM. nd. 9pp.
www.choroideremia.org/CHMtechy.htlm

MacDonald I. (Ophthalmology – University of Alberta). Choroideremia Diagnostic Testing. nd. 1p.
www.ualberta.ca/~ophthalm/choroid.htm


CONSUMER RESOURCES
Choroideremia Research Foundation. Basic Description of Choroideremia. Nd. 2pp.
www.choroideremia.org/CHMplain.html

Choroideremia. EyeMDLink.com. nd. 1p.
www.eyemdlink.com/Condition.asp?ConditionID=108

Health-Nexus. Choroideremia. nd. 2pp.
www.health-nexus.com/choroideremia.htm