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Choroideremia

Choroideremia (CHM) is a rare inherited disorder whose symptoms mirror a more commonly diagnosed condition called retinitis pigmentosa (RP).

Symptoms include:

Night-blindness

Peripheral vision loss

Sensitivity to glare

Loss of depth and color perception

Consider This
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Up to 70% of individuals with choroideremia are initially diagnosed with RP. Presentation of symptoms, as well as ERG and OCT findings for the diseases are similar.

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The only way to know with 100% certainty which condition your patient has is through free genetic testing.

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Although there are currently no cures for either RP or CHM, once the cause of vision loss is known, promising clinical trial options may be available for patients with either condition which could potentially slow progression or preserve remaining eyesight.

CRF provides services for patients, family members and the medical professionals who treat them:

Professional Networking Opportunities

Join 80+ members of the International Choroideremia Research Foundation from 23+ countries.
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Scientific Resources

Access animal models, iPSCs, free educational webinars and other resources to accelerate CHM clinical trials and cutting-edge research.
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Patient and family support

Live and virtual support on the phone, via Zoom or by email for your patients and their family members.
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In-person meetings and events

International conferences, regional town hall meetings, and scientific symposia for both patients and medical professionals.
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Info on genetic testing and clinical trials

Information on free genetic testing and clinical trials currently open for enrollment including eligibility and how to participate.
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Research grants for scientists

CRF has provided over $4 million in research grants to study etiology and discover potential treatments and a cure for choroideremia.
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Patient advocacy

CRF presents at rare disease, retinal, and legislative events which helps ensure continuing focus on our rare disease and encourages insurance coverage for new treatments.
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Additional vision loss resources

Information on supplements, diet, lifestyle, technology, home adaptation, orientation and mobility, employment, disability and more.
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Free genetic testing

The only way to confirm a choroideremia diagnosis is via genetic testing, CRF can provide information on how to access free genetic testing for patients and, as this is an inherited disease, their entire family.
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This initiative is sponsored in part thanks to generous support from Biogen

Biogen
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© 2021 Choroideremia Research Foundation, All Rights Reserved.

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