Overview
Retinal macular dystrophy type 2 (also known as MCDR2 or North Carolina-like macular dystrophy) is a rare inherited eye condition that affects the macula, which is the central part of the retina responsible for sharp, detailed vision. The retina is the light-sensitive tissue at the back of the eye, and the macula is its most important area for tasks like reading, driving, and recognizing faces. In this condition, the macula gradually deteriorates over time, leading to progressive loss of central vision. People with this disease typically notice difficulty with fine visual tasks such as reading small print or seeing details clearly. Peripheral (side) vision is usually preserved, meaning that complete blindness is uncommon. The severity can vary significantly between affected individuals, even within the same family. Some people may have relatively mild vision changes, while others experience more significant central vision loss. Currently, there is no cure or specific treatment that can reverse or halt the progression of retinal macular dystrophy type 2. Management focuses on regular eye monitoring, use of low-vision aids such as magnifying devices, and adaptive strategies to help maintain quality of life. Research into gene therapy and other approaches for inherited retinal diseases is ongoing and may offer future treatment possibilities.
Also known as:
Key symptoms:
Gradual loss of central visionBlurred vision, especially for fine detailsDifficulty reading small printTrouble recognizing facesDistorted vision where straight lines appear wavyReduced color perception in the central visual fieldDark or blank spots in the center of visionDifficulty seeing in low-light conditionsPreserved peripheral (side) visionVariable severity between family members
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
2 eventsBiobizkaia Health Research Institute — PHASE4
Hywel Dda Health Board
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Retinal macular dystrophy type 2.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Retinal macular dystrophy type 2 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 Retinal macular dystrophy type 2.
Community
No community posts yet. Be the first to share your experience with Retinal macular dystrophy type 2.
Start the conversation →Latest news about Retinal macular dystrophy type 2
Disease timeline:
New recruiting trial: Investigating the Metabolic and Lipidomic Profiles That Are Associated With Varying Grades of Diabetic Maculopathy and Retinopathy in South Wales
A new clinical trial is recruiting patients for Retinal macular dystrophy type 2
New recruiting trial: Evaluation of NeoRetina Artificial Intelligence Algorithm for the Screening of Diabetic Retinopathy at the CHUM
A new clinical trial is recruiting patients for Retinal macular dystrophy type 2
New recruiting trial: MS-553 in Diabetic Retinopathy Patients With Central Involved Macular Edema
A new clinical trial is recruiting patients for Retinal macular dystrophy type 2
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 advanced is the macular dystrophy in my eyes right now, and what is the expected rate of progression?,Are there any clinical trials or emerging treatments for PROM1-related retinal dystrophy that I might be eligible for?,What low-vision aids or rehabilitation services would you recommend for my current level of vision?,How often should I have follow-up eye exams, and what specific tests will be done?,Should my family members be tested for this genetic condition?,Are there any signs of complications like abnormal blood vessel growth that I should watch for?,Can you refer me to a genetic counselor to discuss inheritance and family planning?
Common questions about Retinal macular dystrophy type 2
What is Retinal macular dystrophy type 2?
Retinal macular dystrophy type 2 (also known as MCDR2 or North Carolina-like macular dystrophy) is a rare inherited eye condition that affects the macula, which is the central part of the retina responsible for sharp, detailed vision. The retina is the light-sensitive tissue at the back of the eye, and the macula is its most important area for tasks like reading, driving, and recognizing faces. In this condition, the macula gradually deteriorates over time, leading to progressive loss of central vision. People with this disease typically notice difficulty with fine visual tasks such as readin
How is Retinal macular dystrophy type 2 inherited?
Retinal macular dystrophy type 2 follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Retinal macular dystrophy type 2?
8 specialists and care centers treating Retinal macular dystrophy type 2 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.