Overview
North Carolina macular dystrophy (NCMD) is a rare inherited eye condition that affects the macula — the small central part of the retina responsible for sharp, detailed vision. The disease was first described in families from North Carolina, USA, which is how it got its name. It is also sometimes called central areolar choroidal dystrophy type 2 or MCDR1 (macular dystrophy, retinal, 1). NCMD is present from birth, meaning the eye changes develop before a baby is born, even though they may not be noticed until later in childhood or adulthood. The main feature of NCMD is damage to the macula that can range from mild drusen-like deposits (small yellow spots) to large areas of tissue loss in the center of the eye. Because of this, people with NCMD may have reduced central vision, making it harder to read, recognize faces, or see fine details. However, side (peripheral) vision is usually preserved, so most people do not go completely blind. Vision loss can vary greatly — some people have nearly normal vision throughout their lives, while others experience more significant central vision loss. There is currently no cure or treatment that can stop or reverse the eye changes in NCMD. Management focuses on helping people make the most of their remaining vision through low vision aids, magnifying devices, and regular monitoring by an eye specialist. Because the condition is stable or very slowly progressive in most people, many individuals with NCMD are able to live full and independent lives with appropriate support.
Also known as:
Key symptoms:
Reduced central vision (difficulty seeing fine details)Trouble reading small printDifficulty recognizing facesYellow deposits or drusen-like spots in the center of the retinaAreas of tissue loss (atrophy) in the maculaBlurred or distorted central visionSensitivity to bright light in some casesPreserved side (peripheral) visionVision problems that may be noticed in childhood or early adulthoodStable or very slowly worsening vision over time in most people
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for North Carolina macular dystrophy.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for North Carolina macular dystrophy at this time.
New trials open frequently. Follow this disease to get notified.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to North Carolina macular dystrophy.
Community
No community posts yet. Be the first to share your experience with North Carolina macular dystrophy.
Start the conversation →Latest news about North Carolina macular dystrophy
No recent news articles for North Carolina macular dystrophy.
Follow this condition to be notified when news becomes available.
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.How severe is my (or my child's) macular involvement, and what does that mean for future vision?,Should I have genetic testing, and which genes or regions should be tested?,What low vision aids or services would you recommend for my level of vision loss?,How often should I have eye exams to monitor for any changes?,Should other family members be tested, and how does the inheritance pattern affect my children?,Are there any clinical trials or research studies I could participate in?,Are there any activities or environmental factors I should avoid to protect my remaining vision?
Common questions about North Carolina macular dystrophy
What is North Carolina macular dystrophy?
North Carolina macular dystrophy (NCMD) is a rare inherited eye condition that affects the macula — the small central part of the retina responsible for sharp, detailed vision. The disease was first described in families from North Carolina, USA, which is how it got its name. It is also sometimes called central areolar choroidal dystrophy type 2 or MCDR1 (macular dystrophy, retinal, 1). NCMD is present from birth, meaning the eye changes develop before a baby is born, even though they may not be noticed until later in childhood or adulthood. The main feature of NCMD is damage to the macula th
How is North Carolina macular dystrophy inherited?
North Carolina macular dystrophy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does North Carolina macular dystrophy typically begin?
Typical onset of North Carolina macular dystrophy is neonatal. Age of onset can vary across affected individuals.
Which specialists treat North Carolina macular dystrophy?
1 specialists and care centers treating North Carolina macular dystrophy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.