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Disease Profile
North Carolina macular dystrophy
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Childhood
ICD-10
H35.5
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
NCMD; Macular dystrophy retinal 1 North Carolina type; MCDR1;
Categories
Congenital and Genetic Diseases; Eye diseases
Summary
North Carolina macular dystrophy (NCMD) is an
NCMD is caused by changes (
Symptoms
Findings on eye exam also vary and can be classified into three different grades depending on severity of changes that occurred during the development of the macula and related parts of the eye. It is important to remember a person with NCMD is born with these changes, rather than these changes developing throughout a person's lifetime. The Grades may be described as:[2][4]
- Grade 1: Yellow-white spots or lesions (drusen) on the macula (usually causing no vision loss or mild blurriness of fine details)
- Grade 2: Clustered and joined yellow-white spots (drusen) on the macula with or without changes within the retinal pigment epithelium (RPE) and formation of scar
tissue . The RPE is the colored part of the retina, and although it is not involved in vision, it helps the retinalcells involved in vision get the nourishment needed to stay healthy. - Grade 3: Thin outer, white coat of the eye (staphyloma) or loss of macular tissue (coloboma) with damage and loss of tissue in the layer of nerves and blood vessels under the retina (choroid) and retina (chorioretinal atrophy). Vision loss is usually more severe with these findings.
New blood vessels may also develop in the choroid (choroidal neovascularization) later in life, although this is not common. The choroid is a layer of nerves and blood vessels under the retina. The retina needs a healthy choroid to work. The abnormal growth of blood vessels in the choroid can damage the retina causing increased vision loss.[2][3][4]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of macular pigmentation | 0008002 | |
0000006 | ||
Central scotoma |
Central blind spot
|
0000603 |
Drusen | 0011510 | |
Generalized aminoaciduria | 0002909 | |
Macular dystrophy | 0007754 | |
Peripheral retinal atrophy |
Wasting of the outer part of the retina
|
0200070 |
Reduced visual acuity |
Decreased clarity of vision
|
0007663 |
Cause
The way a pathogenic variation in the genetic locus causes NCMD can be hard to understand. In many genetic diseases, the change in the
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss North Carolina macular dystrophy. Click on the link to view a sample search on this topic.
References
- Macular Dystrophy, Retinal, 1, North Carolina Type; MCDR1. Online Mendelian Inheritance in Man (OMIM). August 11, 2016; https://www.omim.org/entry/136550.
- Khurana RN, Sun X, Pearson E, Yang Z, Harmon J, Goldberg MF, Zhang K. A Reappraisal of the Clinical Spectrum of North Carolina Macular Dystrophy. Ophthalmology. October 2009; 116(10):1976-1983. https://www.ncbi.nlm.nih.gov/pubmed/19616854.
- Cipriani V, Silva RS, Arno G, et al. Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus. Scientific Reports. August 8, 2017; 7(1):7512-18. https://www.mcbi.nlm.nih.gov/pmc/articles/PMC5548758/.
- Audere M, Rutka K, Inaskina I, Peculis R, Sepetiene S, Valeina S, Lace B. Genetic linkage studies of a North Carolina macular dystrophy family. Medicina (Kaunas). 2016; 52(3):180-6. https://www.ncbi.nlm.nih.gov/pubmed/27496188.
- Small KW, DeLuca AP, Whitmore SS, et al. North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13. Ophthalmology. January 2016; 123(1):9-28. https://www.ncbi.nlm.nih.gov/pubmed/26507665.
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