Choroideremia
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| Choroideremia Classification and external resources | |
| ICD-10 | H31.2 |
|---|---|
| ICD-9 | 363.55 |
| OMIM | 303100 |
| DiseasesDB | 2619 |
| MeSH | D015794 |
Choroideremia is an X-linked recessive retinal degenerative disease that leads to the degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye.
Contents |
Pathophysiology
Choroideremia is caused by the deletion of the Rab escort protein 1 (REP1). Rab escort protein 2 (REP2) is 75% identical and can almost compensate for the loss of REP1. The REPs are essential for the prenylation of Rab proteins. Studies have shown that there is a build up of unprenylated Rab27 in lymphoblasts from Choroideremia patients.
Presentation
Generally, only men show symptoms of this disease, although in rare cases some women also acquire it. Initially a person suffering from choroideremia has night blindness, which begins in youth. As the disease progresses, a CHM sufferer loses their peripheral vision and depth perception, eventually losing all sight by middle age. In some cases, a severe loss of acuity and color perception become evident as the disease progresses.
The link between the loss of REP1 and the build up of unprenylated Rab27 and the degeneration of the eye is unknown as yet.
Prognosis
At this time, there is no treatment or cure for this disease.
See also
- Griscelli syndrome. Type two Griscelli syndrome is caused by the loss of Rab27. It has completely different symptoms from Choroideremia
External links
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Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
