Eye and hearing diseases
An inherited disease in which the back layers of the eye are slowly lost. It mostly affects males. Night vision gets worse first, then the field of vision narrows.
Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source
This page is translated from the Turkish original.
This disease is followed through the “Eye and hearing diseases” group.
A change in the CHM gene leads to a lack of a protein that carries out transport inside the cell. This lack affects the retina the most. The retina, the pigment layer beneath it and the network of blood vessels called the choroid are lost over time. Central vision is usually kept until later in life.
Symptoms begin in childhood and progress slowly. The speed varies from person to person.
The eye doctor looks at the back of the eye for loss in the retina. A visual field test is done. A genetic test can show the change in the CHM gene.
There is not yet an approved treatment for the disease itself. Support can be given for the symptoms. Aids and services for people with low vision make daily life easier. Research is ongoing. Genetic counselling is recommended for the family. The doctor who follows the disease decides which treatment is suitable.
It is inherited in an X-linked recessive way. For each son of a carrier mother, the chance of being affected is 1 in 2. For each daughter, the chance of being a carrier is also 1 in 2. All daughters of an affected father are carriers; his sons are not affected. Carrier women usually have no symptoms, or only mild ones. Genetic counselling is recommended.
Source: MedlinePlus Genetics: Choroideremia · NORD: Choroideremia · Orphanet: Choroideremia (ORPHA:180)
These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.
Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.
We could not find a patient association specific to this disease.
For all rare diseases: Nadir Hastalıklar Federasyonu
Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.
GlobalResearch and clinical trials
A total of 11 studies examining gene therapy given into the eye in choroideremia were evaluated together.
A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.
Questions you can ask your doctor
ClinicalTrials.gov lists 2 active interventional studies for this disease. None is recruiting right now; none has a site in Türkiye. Last checked: October 7, 2026.
Selected records (studies with a site in Türkiye first):
Early stage: safety and dose are being tested · Phase 1 · investigational (experimental)Active, not recruitingNCT06460844
Early stage: safety and dose are being tested · Phase 1 · investigational (experimental)Active, not recruitingNCT04483440
See all studies on ClinicalTrials.gov · Joining clinical trials
TürkiyeSGK and reimbursement
A drug used for a rare disease affecting the optic nerve has been added to reimbursement coverage.
USAResearch and clinical trials
A two-year, placebo-controlled study was carried out at 7 centers in the USA.
TürkiyeResearch and clinical trials
Gazi University studied the eyes of 27 children.
These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.
Orphanet code: ORPHA:180
No separate ICD-11 code; WHO classifies this disease under: 9B61
Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.
This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.