For Clinicians

The information in this section is specifically designed to provide information for medical professionals treating patients with choroideremia or scientists researching CHM.

Clinical Differential Diagnosis

Choroideremia (CHM) Vs. Retinitis Pigmentosa

Many CHM patients are often initially misdiagnosed with Retinitis Pigmentosa (RP), as these two conditions have similar symptoms, ERG and OCT findings. To learn more about the differences, please see this Clinical Differential Diagnosis PDF.

Free Genetic Testing through My Retina Tracker

Blueprint Genetics in partnership with the Foundation Fighting Blindness and InformedDNA offers the My Retina Tracker Program®, which is an open access, no-cost genetic testing program for individuals living in the United States with a clinical diagnosis of an inherited retinal degeneration (IRD). The program provides individuals with an IRD access to a 285 gene panel targeting relevant genes associated with IRD, including the difficult to sequence RPGR gene. As part of this program, there is no-charge genetic counseling through InformedDNA, the leader in counseling individuals and families affected by IRDs. Although it is not required for participation, this program offers an easy opportunity to join the My Retina Tracker Registry, which provides individuals the opportunity to contribute to research and the option to be contacted from the Foundation Fighting Blindness about relevant clinical trials. To get started, please talk to your doctor about the program.

Free Genetic Testing through Eye Want 2 Know

There are more than 260 genes known to cause these inherited retinal conditions, and the availability of genetic testing has opened doors and brought information and clarity to those living with one of these rare eye diseases.

With research efforts intensifying, it is more critical than ever to speak with your doctor about genetic testing. Today there are more than 100 recruiting, enrolling or active clinical studies for inherited retinal diseases on, the national resource housing information on all clinical studies across the country.

If you were previously tested more than five years ago and you didn’t receive a conclusive result – or any result at all – think about getting tested again. Genetic tests have improved, research is advancing, and a person may learn more from a newer test, especially with the identification of new genes.

Knowledge is power, and the more patients and the medical community know about specific gene mutations, the faster clinical trials may progress.

Free Genetic Testing through Project CHM

The Choroideremia Research Foundation is happy to announce that for a limited time, FREE genetic testing is available to anyone who has received a clinical diagnosis of CHM but has not undergone genetic testing. This has been made possible through funding by the CRF and a generous donation by PTC Therapeutics ( Anyone interested in being part of a Clinical Trial or eventually being treated for CHM must have a Genetic Test confirming their CHM diagnosis.

To have free genetic testing performed through Project CHM, you can follow the following steps:

  1. Download the Project CHM Genetic Testing Voucher.
  2. Complete the online request form at Carver Lab for your patient. For method of payment, select “Voucher”.
  3. Draw a blood sample drawn. Send it to the Carver Lab with the voucher.
  4. To increase insurance reimbursement for genetic testing, please ask your patients to submit their testing to their insurance company. Carver Lab will send an invoice marked PAID to patients, who should then file the invoice with their insurance company.
  5. Please ask your patients to register with the CHM Patient Registry by clicking on your preferred language to register English, French, German, Portuguese, or Spanish – the Patient Registry takes less than 5 min to complete.

Physicians should receive results from the genetic testing within 3 months to share with their patients. If results have not been received within 3 months, please follow up with the Carver Laboratory.

If positive results are confirmed, as CHM is an inherited retinal disease, other family members should also be considered for testing.

Please note that the voucher expires on December 31, 2020. Subject to available funds, this program may be extended so feel free to check back after this date.

Project CHM is a collaborative program between the CRF and the Carver Laboratory at the University of Iowa to provide genetic testing for those affected with CHM. The Carver Laboratory is a certified non-profit laboratory that offers low-cost genetic testing for people with retinal diseases like CHM, and the CRF is proud to partner with them to assist people affected with CHM to complete genetic testing.

If you have diagnosed any patients with Choroideremia, it is important to have the diagnosis confirmed through genetic testing. A genetic test is typically performed on a blood sample and identifies the specific genetic mutation in the CHM gene. A positive genetic test with a mutation in the CHM gene provides confirmation that your patient has CHM and not another similar retinal disease. Genetic testing is mandatory for those who want to be enrolled in a clinical trial or other research study on CHM.

Clinical Trials

While there is no current treatment or cure available for Choroideremia, there are a number of clinical trials currently underway testing potential treatments for CHM. Individuals interested in being part of a clinical trial, or eventually being treated for CHM when a treatment or cure becomes available will need to have had a genetic test to confirm their diagnosis of Choroideremia. These tests involve a simple blood draw that is sent off to an accredited lab where a diagnosis of CHM can be confirmed at a genetic level. Please note that any information regarding clinical trials or genetic testing is being provided for informational purposes only. The Choroideremia Research Foundation does not endorse any specific company or clinical trial. Please discuss any questions you may have with your healthcare provider.

A number of clinical trials and natural history studies for Choroideremia are currently available and listed on the National Institutes of Health’s website.

Join the International Choroideremia Research Network (ICRN)

The International Choroideremia Research Network (ICRN) is a global collaboration of research groups from renowned institutions who are working in concert to improve knowledge about choroideremia etiology, prevention, early detection, treatment, and prognosis. The network is comprised of highly talented individuals from a spectrum of disciplines, perspectives, and research methods who share a passion to make significant scientific advances to improve outcomes for patients with choroideremia.

To learn more and to join, click here.

Choroideremia Research Foundation logo icon in white

Join the CRF Science Advisory Board

If you are interested in joining our Science Advisory Board, please contact:
Dr. Jess Thompson, Research Committee Chair, at (800) 201-0233 x 2 or for more information.


The search for a cure to CHM is not possible without our generous supporters.