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Disease Profile
Cone 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.
Unknown
Age of onset
Adult
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
Categories
Congenital and Genetic Diseases; Eye diseases
Summary
Cone dystrophy is a general term for a group of rare
Symptoms
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal electroretinogram | 0000512 | |
Abnormality of retinal pigmentation | 0007703 | |
Color vision defect |
Abnormal color vision
Abnormality of color vision
[ more ] |
0000551 |
Photophobia |
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ] |
0000613 |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
Diagnosis
During an ERG, eye drops are used to numb the eye before a special contact lens recorder is placed on the eye. Then a series of flashes of light are used to stimulate the retina. Doctors can then measure the electrical response of the rods and cones to the light. The test is performed twice – once in bright room and again in a dark room. A weak of absent signal of cone
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Foundation Fighting Blindness
7168 Columbia Gateway Drive, Suite 100
Columbia, MD 21046
Toll-free: 1-800-683-5555
Telephone: +1-410-423-0600
TTY: 1-800-683-5551
E-mail: [email protected]
Website: https://www.fightingblindness.org/
Organizations Providing General Support
-
American Foundation for the Blind
1401 South Clark Street
Suite 730
Arlington, VA 22202
Toll-free: 800-232-5463
Telephone: 212-502-7600
E-mail: [email protected]
Website: https://www.afb.org/ -
Retina International
Suite 108, Camden Business Centre
12 Camden Row
Dublin 8
Ireland
Telephone: +353 1 472 0468
E-mail: [email protected]
Website: https://www.retina-international.org/
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.
Where to Start
- The National Organization of Rare Diseases (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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.
- 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 Cone dystrophy. Click on the link to view a sample search on this topic.
References
- Heckenlively J. Cone Dystrophy. NORD. 2010; https://rarediseases.org/rare-diseases/cone-dystrophy/.
- Simunovic, M.P., Moore, A.T. The cone dystrophies. Royal College of Ophthalmologists. 1998; https://www.nature.com/eye/journal/v12/n3b/pdf/eye1998145a.pdf. Accessed 6/19/2013.
- Heckenlively J. Cone Dystrophy. National Organization for Rare Disorders (NORD). 2010; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/847/viewAbstract. Accessed 9/2/2014.
- Openshaw A, Branham K, Heckenlively J. Understanding Cone Dystrophy. University of Michigan Kellogg Eye Center. February 2008; https://www.kellogg.umich.edu/patientcare/downloads/Understand-Cone-Dystrophy.pdf. Accessed 9/2/2014.
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