choroideremia
Sign in to saveAlso known as progressive Choroidal Atrophy, CHM
Choroideremia (; CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness, followed by peripheral vision loss and progressing to loss of central vision later in life. Progression continues throughout the individual's life, but both the rate of change and the degree of visual loss are variable among those affected, even within the same family.
Key facts
- Medical condition (new).name
- Choroideremia
- Medical condition (new).synonyms
- CHM, Tapetochoroidal dystrophy
- Medical condition (new).image
- File:Sex linked inheritance.png
- Medical condition (new).caption
- An example pedigree chart, showing the inheritance of a sex-linked disorder like choroideremia.
- Medical condition (new).field
- Ophthalmology
- Medical condition (new).symptoms
- Progressive vision loss
- Medical condition (new).onset
- Childhood
- Medical condition (new).duration
- Chronic
- Medical condition (new).causes
- Genetic
- Medical condition (new).diagnosis
- Genetic testing, family history, fundus examination
via Wikipedia infobox
Research
782 papers- Choroideremia.Current opinion in ophthalmology · 2017
- Choroideremia: molecular mechanisms and therapies.Trends in molecular medicine · 2022
- Choroideremia: The Endpoint Endgame.International journal of molecular sciences · 2023
- X-Linked Choroideremia.Advances in experimental medicine and biology · 2025
- CHOROIDEREMIA: Retinal Degeneration With an Unmet Need.Retina (Philadelphia, Pa.) · 2019
via PubMed
~10 min read
Encyclopedic overview
14 sectionsContents
- Presentation
- Cause
- Diagnosis
- Management
- Gene therapy
- Preimplantation genetic diagnosis
- Other potential therapies
- Research
- History
- Basic research
- Culture
- References
- Further reading
- External links
Choroideremia (; CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness, followed by peripheral vision loss and progressing to loss of central vision later in life. Progression continues throughout the individual's life, but both the rate of change and the degree of visual loss are variable among those affected, even within the same family.
Choroideremia is caused by a loss-of-function mutation in the CHM gene which encodes Rab escort protein 1 (REP1), a protein involved in lipid modification of Rab proteins. While the complete mechanism of disease is not fully understood, the lack of a functional protein in the retina results in cell death and the gradual deterioration of the retinal pigment epithelium (RPE), photoreceptors and the choroid.
Excerpted from Wikipedia’s “choroideremia” article, available under the CC BY-SA 4.0 licence.