Central areolar choroidal dystrophy

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ORPHA:75377OMIM:215500H31.2
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Overview

Central areolar choroidal dystrophy (CACD) is a rare inherited eye disease that slowly damages the central part of the retina — the light-sensitive tissue at the back of your eye. The retina has a special zone called the macula, which is responsible for sharp, detailed vision used for reading, recognizing faces, and seeing fine details. In CACD, the layer beneath the macula called the choroid gradually breaks down, along with the retinal pigment epithelium (RPE), leading to a well-defined area of tissue loss right in the center of your vision. This condition is also sometimes called central areolar choroidal sclerosis. Most people with CACD begin noticing subtle changes in their central vision during their 30s or 40s, though the disease can start earlier or later. Common symptoms include blurry or distorted central vision, difficulty reading small print, and trouble seeing fine details. Side (peripheral) vision is usually preserved, so most people do not become completely blind. Over time, a blind spot may develop in the center of the visual field. There is currently no cure for CACD, and no treatment has been proven to stop or reverse the damage. Management focuses on monitoring vision changes, using low-vision aids such as magnifiers and special lighting, and protecting the eyes from further harm. Research into gene therapy and other approaches is ongoing, giving hope for future treatments.

Also known as:

Key symptoms:

Blurry or hazy central visionDifficulty reading small print or fine textTrouble recognizing facesA dark or empty spot in the center of vision (central scotoma)Distorted or wavy appearance of straight linesColors appearing less vivid or washed outDifficulty seeing in low light or at nightGradual worsening of central vision over yearsPreserved side (peripheral) vision

Clinical phenotype terms (17)— hover any for plain English
Hyperautofluorescent macular lesionHP:0030631Full-thickness macular holeHP:0031152Macular atrophyHP:0007401Fundus hypopigmentationHP:0007894Slow decrease in visual acuityHP:0007924Foveal photoreceptor outer segment loss on macular OCTHP:0030615Chorioretinal atrophyHP:0000533Retinal pigment epithelial mottlingHP:0007814Absent retinal pigment epitheliumHP:0007980DrusenHP:0011510Choriocapillaris atrophyHP:0030491Perifoveal ring of hyperautofluorescenceHP:0030629DyschromatopsiaHP:0007641
Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Central areolar choroidal dystrophy.

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No actively recruiting trials found for Central areolar choroidal dystrophy at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Central areolar choroidal dystrophy community →

No specialists are currently listed for Central areolar choroidal dystrophy.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Central areolar choroidal dystrophy.

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Community

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.Which gene is causing my CACD, and what does that mean for my children or siblings?,How quickly do you expect my vision to change, and what signs should prompt me to call you sooner?,Are there any clinical trials or research studies I could join?,What low-vision aids or rehabilitation services do you recommend for my current level of vision?,Should I take any vitamin supplements, and are there lifestyle changes that might help protect my remaining vision?,When will I need to stop driving, and how will we make that decision together?,Are there any new treatments on the horizon that I should know about?

Common questions about Central areolar choroidal dystrophy

What is Central areolar choroidal dystrophy?

Central areolar choroidal dystrophy (CACD) is a rare inherited eye disease that slowly damages the central part of the retina — the light-sensitive tissue at the back of your eye. The retina has a special zone called the macula, which is responsible for sharp, detailed vision used for reading, recognizing faces, and seeing fine details. In CACD, the layer beneath the macula called the choroid gradually breaks down, along with the retinal pigment epithelium (RPE), leading to a well-defined area of tissue loss right in the center of your vision. This condition is also sometimes called central ar

How is Central areolar choroidal dystrophy inherited?

Central areolar choroidal dystrophy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Central areolar choroidal dystrophy typically begin?

Typical onset of Central areolar choroidal dystrophy is adult. Age of onset can vary across affected individuals.