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Keratoconus


Información en español Title


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Other Names:
Noninflammatory corneal thining; KC
Categories:
Eye diseases

Summary Summary


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Keratoconus is the degeneration of the structure of the cornea, which is the clear tissue covering the front of the eye. In this condition, the shape of the cornea slowly changes from the normal round shape to a cone shape. Most people who develop keratoconus start out nearsighted, which tends to become worse over time. The earliest symptom is a slight blurring of vision that cannot be corrected with glasses. Over time, there may be eye halos, glare, or other night vision problems.The cause is unknown, but the tendency to develop keratoconus is probably present from birth. Keratoconus is thought to involve a defect in collagen, the tissue that makes up most of the cornea. Some researchers believe that allergy and eye rubbing may play a role.[1] Treatment for keratoconus depends on the severity of your condition and how quickly the condition is progressing. Mild to moderate keratoconus can be treated with eyeglasses or contact lenses. In some people the cornea becomes scarred or wearing contact lenses becomes difficult. In these cases, surgery might be necessary.[2]
Last updated: 3/23/2016

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 4 |
Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Astigmatism
Abnormal curving of the cornea or lens of the eye
0000483
Autosomal dominant inheritance 0000006
Keratoconus
Bulging cornea
0000563
Young adult onset 0011462
Showing of 4 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Cause Cause


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The exact cause of keratoconus is unknown. Both genetic and environmental factors may play a role in the development of keratoconus.

The genetic factors involve abnormalities in the structure of collagen, which result in a weak and flexible cornea. Keratoconus is more common in people with Down syndrome, Marfan syndrome, and Leber congenital amaurosis, and certain genetic conditions. In these cases, the cause depends on the specific condition.[3] 

Environmental factors may include living in sunny, hot areas of the world, while eye-rubbing is a major behavioral factor in the disease. Malfunctioning enzymes that normally help maintain the health of the cornea may play a role. All of these factors contribute to the main problem in keratoconus, which is the defective collagen structure that results in thinning and irregularity of the cornea. Keratoconus occurs more frequently in patients with atopy (asthma and eczema) or severe ocular allergies. It may also be linked to hormonal factors because it is more frequent during puberty and also may progress during pregnancy.[3]
Last updated: 4/15/2016

Treatment Treatment


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Treatment depends on the severity of the keratoconus symptoms and may include: :[4][5]
  • Eyeglasses and contact lens: During early stages, vision can be corrected with eyeglasses. As the condition progresses, rigid contacts may need to be worn so that light entering the eye is refracted evenly and vision is not distorted. You should also refrain from rubbing your eyes, as this can aggravate the thin corneal tissue and make symptoms worse. 
  • Laser: Laser can improve corneal abrasions and contact lens tolerance.
  • Implants: Keratoconus can also be treated with Intacs, which are small curved implantable corneal devices that can reshape the cornea. Intacs are FDA approved and can help flatten the steep cornea found in keratoconus. 
  • Collagen: Collagen cross-linking is a new treatment that uses a special laser and eyedrops to promote “cross-linking” or strengthening of the collagen fibers that make up the cornea. This treatment may flatten or stiffen the cornea, preventing further protrusion. 
  • Corneal transplant: When good vision is no longer possible with other treatments, a corneal transplant may be recommended. This surgery is only necessary in about 10 percent to 20 percent of patients with keratoconus. In a corneal transplant, the diseased cornea is removed and replaced with a healthy donor cornea. A transplanted cornea heals slowly. It can take up to a year or more to recover good vision after corneal transplantation. Usually contact lenses are needed afterwards. 
  • Deep Anterior Lamellar Keratoplasty: With this procedure, only the front and middle layers of the cornea are transplanted. The benefits of this transplant over the “full” cornea transplant is a much faster healing period and less risk of rejection.
Last updated: 3/28/2016

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

  • riboflavin ophthalmic solution & ultraviolet A (Brand name: Photrexa Viscous) - Manufactured by Avedro, Inc.
    FDA-approved indication: Treatment of progressive keratoconus.
    National Library of Medicine Drug Information Portal

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Keratoconus. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

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

  • The Global Keratoconus Foundation
    E-mail: http://kcglobal.org/component/option , com_contact/Itemid , 3/
    Website: http://kcglobal.org

Social Networking Websites

  • Keratoconus Group
    Website: http://www.keratoconusgroup.org/
  • Keratomania: Keratoconus Support and Awareness
    Website: http://www.keratomania.com/
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

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers. 
  • The National Eye Institute (NEI) was established by Congress in 1968 to protect and prolong the vision of the American people. Click on the link to view information on this topic. 
  • The National Organization for Rare Disorders (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

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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 Keratoconus. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

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. Vorvick LJ & Lusby FW. Keratoconus. MedlinePlus. 2014; http://www.nlm.nih.gov/medlineplus/ency/article/001013.htm.
  2. Keratoconus Treatment. Mayo Clinic. January 30, 2016; http://www.mayoclinic.org/diseases-conditions/keratoconus/diagnosis-treatment/treatment/txc-20180387.
  3. Keratoconus treatment. American Academy of Ophthalmology. March, 2015; http://www.aao.org/eye-health/diseases/keratoconus-treatment.
  4. How is keratoconus treated?. WebMD. 2015; http://www.webmd.com/eye-health/eye-health-keratoconus?page=2#3.
  5. Keratoconus treatment. American Academy of Ophthalmology. 2015; http://www.aao.org/eye-health/diseases/keratoconus-treatment.
Do you know of a review article? We want to hear from you.
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