Progressive bifocal chorioretinal atrophy

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ORPHA:75373OMIM:600790H35.5
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Overview

Progressive bifocal chorioretinal atrophy (PBCRA) is a rare inherited eye disease that slowly damages the retina and choroid — the light-sensitive layers at the back of the eye. The disease causes two distinct areas of tissue loss (called atrophy) in each eye: one near the center of vision (the macula) and one toward the outer edge of the retina (the nasal periphery). These patches of damage grow larger over time, which is why the disease is called 'progressive.' PBCRA is also sometimes referred to by its full descriptive name in older medical literature. People with PBCRA typically notice problems with their central vision first, making it harder to read, recognize faces, or see fine details. Side (peripheral) vision may also be affected as the disease advances. Night vision difficulties and sensitivity to light are also common. The condition affects both eyes and tends to worsen gradually over decades. There is currently no cure or approved treatment that can stop or reverse the damage caused by PBCRA. Care focuses on helping people make the most of their remaining vision through low vision aids, magnification devices, and lifestyle adjustments. Regular monitoring by an eye specialist is important to track how the disease is progressing and to plan for future vision needs.

Also known as:

Key symptoms:

Blurred or reduced central visionDifficulty reading or seeing fine detailsBlind spots in the center of visionLoss of side (peripheral) vision over timePoor vision in dim light or at nightSensitivity to bright lightDifficulty recognizing facesGradual worsening of vision over yearsPale or washed-out patches visible on eye examination

Clinical phenotype terms (7)— hover any for plain English
Chorioretinal dystrophyHP:0001135Macular atrophyHP:0007401
Inheritance

Autosomal dominant

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

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Progressive bifocal chorioretinal atrophy.

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No actively recruiting trials found for Progressive bifocal chorioretinal atrophy at this time.

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No specialists are currently listed for Progressive bifocal chorioretinal atrophy.

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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 Progressive bifocal chorioretinal atrophy.

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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

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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.How quickly do you expect my vision to change, and what signs should I watch for?,Should other members of my family be tested for this condition?,What low vision services or rehabilitation programs do you recommend?,Are there any clinical trials or research studies I could participate in?,What accommodations should I request at school or work?,Are there any vitamins, supplements, or lifestyle changes that might help protect my remaining vision?,How often should I have my eyes checked, and what tests will be done at each visit?

Common questions about Progressive bifocal chorioretinal atrophy

What is Progressive bifocal chorioretinal atrophy?

Progressive bifocal chorioretinal atrophy (PBCRA) is a rare inherited eye disease that slowly damages the retina and choroid — the light-sensitive layers at the back of the eye. The disease causes two distinct areas of tissue loss (called atrophy) in each eye: one near the center of vision (the macula) and one toward the outer edge of the retina (the nasal periphery). These patches of damage grow larger over time, which is why the disease is called 'progressive.' PBCRA is also sometimes referred to by its full descriptive name in older medical literature. People with PBCRA typically notice pr

How is Progressive bifocal chorioretinal atrophy inherited?

Progressive bifocal chorioretinal atrophy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Progressive bifocal chorioretinal atrophy typically begin?

Typical onset of Progressive bifocal chorioretinal atrophy is childhood. Age of onset can vary across affected individuals.