Choroideremia: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Choroideremia?
An ophthalmologist, an eye doctor who treats eye diseases, usually cares for choroideremia. A retina specialist, an eye doctor who focuses on the back of the eye, can also diagnose it. A genetic counselor, an expert who explains inherited conditions, can help families. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is choroideremia?
Choroideremia (KOR-oid-ER-ee-mee-uh) is a condition that causes vision loss that gets worse over time. It mainly affects males.
The vision problems happen because of an ongoing loss of cells in two places at the back of the eye. One is the retina, the light-sensing tissue that lines the back of the eye. The other is the choroid, a nearby network of blood vessels.
Choroideremia is rare. It is estimated to affect 1 in 50,000 to 100,000 people. Doctors may miss it because it looks like other eye disorders.
Symptoms
The first symptom is usually trouble seeing at night, called night blindness. It can start in early childhood. After that, the field of vision gets narrower over time, which is called tunnel vision. It also becomes harder to see small details.
Other changes can include:
- Loss of color vision, which happens as the macula, the center of the retina, breaks down
- Posterior subcapsular cataracts, a type of cloudy area in the lens of the eye, in some people
Vision loss gets worse over time, but how fast it happens is different from person to person. MedlinePlus Genetics states that all people with this condition will develop blindness, most commonly in late adulthood.
Causes and who gets it
Changes in a gene called CHM cause choroideremia. A gene is a set of instructions in your cells. The CHM gene tells the body how to make a protein called REP-1. REP-1 helps move other proteins to the right places inside cells.
With a CHM change, the body makes no REP-1 or makes REP-1 that does not work. Without it, cells die too early.
Choroideremia is passed down in an X-linked recessive pattern. The CHM gene is on the X chromosome. Males have only one X chromosome, so one changed copy of the gene is enough to cause the condition. Females have two X chromosomes, so both copies would need a change. This is why males are affected much more often.
A woman with one changed copy is called a carrier. She can pass the changed gene to her children. A father cannot pass an X-linked trait to his sons.
How doctors diagnose it
Doctors can suspect choroideremia from what they see at the back of the eye and from family history. They then confirm it with genetic testing, a test that looks for a change in the CHM gene. Confirmation matters because choroideremia can look like other eye conditions.
Eye tests can show the damage. They include:
- Fluorescein angiography, a test that uses dye to take pictures of blood vessels in the eye
- Fundus autofluorescence, a picture that shows which parts of the retina are damaged
- Electroretinography, a test that measures how the retina responds to light
Treatment
There is no approved treatment for choroideremia yet. Researchers are testing gene therapy. Gene therapy tries to replace the faulty CHM gene with a working copy. The new gene is placed under the retina during eye surgery.
A phase 3 trial in adult men tested one gene therapy. The trial did not meet its main goal of improving vision. Most side effects in the trial were mild or moderate. The researchers still call gene therapy a promising approach.
Cataract surgery has extra risks for people with choroideremia. These include light damage to the retina from the surgical microscope and swelling in the center of the retina after surgery.
When to see a doctor
See an eye doctor if you or your child has trouble seeing at night or if side vision seems to be getting narrower. These can be early signs of choroideremia.
A sudden drop in central vision can be caused by macular edema, which is swelling in the center of the retina, so tell an eye doctor right away if this happens.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Such a doctor can ask about your symptoms and family history, which help doctors suspect choroideremia.
Common questions
Is choroideremia inherited?
Yes, choroideremia is passed down in families in an X-linked recessive pattern. The CHM gene is on the X chromosome. Males are affected much more often than females.
Does choroideremia cause blindness?
It can lead to blindness over time. MedlinePlus Genetics says all people with this condition will develop blindness, most commonly in late adulthood. How fast vision is lost differs from person to person.
Can women get choroideremia?
Yes, but it is much less common than in men. Women can be carriers with no symptoms, and rarely a woman is affected herself. Some carriers have small patches of cell loss in the retina that can affect vision later in life.
Can gene therapy treat choroideremia?
Researchers are still testing whether gene therapy works for choroideremia. In one phase 3 trial in adult men, the gene therapy did not meet its main goal of improving vision. The researchers still call gene therapy a promising approach.
Sources
- MedlinePlus Genetics - Choroideremia
- American Academy of Ophthalmology - EyeWiki: Choroideremia
- National Library of Medicine (PubMed Central) - Subretinal timrepigene emparvovec in adult men with choroideremia: a randomized phase 3 trial
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
