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Cone dystrophy


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Categories:
Congenital and Genetic Diseases; Eye diseases
Subtypes:
Achromatopsia 2; Achromatopsia 3; Blue cone monochromatism; Achromatopsia 2; Achromatopsia 3; Blue cone monochromatism; Cone dystrophy X-linked with tapetal-like sheen; Retinal cone dystrophy 1; Retinal cone dystrophy 3A; Retinal cone dystrophy 3B; Retinal cone dystrophy 4 See More

Summary Summary


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Cone dystrophy is a general term for a group of rare eye disorders that affect the cone cells of the retina. Cone cells allow a person to see color and fine detail, and they work best in bright light. The cone dystrophies can cause a variety of symptoms such as decreased visual clarity when looking straight ahead, a reduced ability to see colors, and an increased sensitivity to light.[1] There are two main subtypes of cone dystrophy, called stationary cone dystrophy and progressive cone dystrophy. The age when symptoms begin, the type and severity of symptoms, and the progression of symptoms are all very different between individuals, even between people with the same type of cone dystrophy.[1] Mutations in many genes have been found to cause cone dystrophy, and the condition can be inherited in an autosomal dominant, autosomal recessive, or x-linked manner.[2]
Last updated: 7/1/2013

Symptoms Symptoms


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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.

Showing of 5 |
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
Showing of 5 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
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Diagnosis Diagnosis


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The diagnosis of cone dystrophy is made based upon the presence of characteristic symptoms, a detailed family history, a thorough clinical evaluation and a number of supporting tests. While exams that measure visual acuity, perception of color, and field of vision are used to arrive at a proper diagnosis, an electroretinogram (ERG) is used to confirm the diagnosis.[3][4]

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 cells indicates cone dystrophy.[3][4] More details about the diagnosis of cone dystrophy can be accessed through the University of Michigan Kellogg Eye Center. 
Last updated: 9/2/2014

Organizations Organizations


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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

  • Curing Retinal Blindness Foundation
    E-mail: kim@crb1.org
    Website: http://crb1.org/
  • 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: info@fightblindness.org
    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: info@aph.org
    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: avril.daly@retina-International.org
    Website: https://www.retina-international.org/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Heckenlively J. Cone Dystrophy. NORD. 2010; https://rarediseases.org/rare-diseases/cone-dystrophy/.
  2. Simunovic, M.P., Moore, A.T. The cone dystrophies. Royal College of Ophthalmologists. 1998; http://www.nature.com/eye/journal/v12/n3b/pdf/eye1998145a.pdf. Accessed 6/19/2013.
  3. Heckenlively J. Cone Dystrophy. National Organization for Rare Disorders (NORD). 2010; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/847/viewAbstract. Accessed 9/2/2014.
  4. Openshaw A, Branham K, Heckenlively J. Understanding Cone Dystrophy. University of Michigan Kellogg Eye Center. February 2008; http://www.kellogg.umich.edu/patientcare/downloads/Understand-Cone-Dystrophy.pdf. Accessed 9/2/2014.
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