Living with North Carolina macular dystrophy
An inherited eye condition affecting the macula, the center of the retina, with vision loss that ranges from none to severe.
Understanding North Carolina macular dystrophy
The macula lets you see fine details for tasks such as reading and driving, and it helps with seeing colors. The changes vary: some people have little or no vision loss, while others have severe loss. GARD lists childhood as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Reduced sharpness of vision
- Macular dystrophy
- Central blind spot (central scotoma)
- Abnormal pigment in the macula
- Drusen (small deposits under the retina)
- Wearing away of the outer retina
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in a region of chromosome 6 (MCDR1) and a region of chromosome 5 (MCDR3) cause this condition. It is inherited in an autosomal dominant way, meaning one changed copy can be enough.
Also known as: cape dystrophy; caped; central areolar pigment epithelial dystrophy; central retinal pigment epithelial dystrophy; macular dystrophy 1, north carolina type; macular dystrophy retinal 1 north carolina type
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with North Carolina macular dystrophy.
Explore research for North Carolina macular dystrophy
Explore actively recruiting North Carolina macular dystrophy studies with HealthSpark.
Find actively recruiting studies for North Carolina macular dystrophy with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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