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Albinism


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Categories:
Congenital and Genetic Diseases

Summary Summary


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Albinism is a group of inherited disorders that results in little or no production of the pigment melanin, which determines the color of the skin, hair and eyes. Melanin also plays a role in the development of certain optical nerves, so all forms of albinism cause problems with the development and function of the eyes. Other symptoms can include light skin or changes in skin color; very white to brown hair; very light blue to brown eye color that may appear red in some light and may change with age; sensitivity to sun exposure; and increased risk of developing skin cancer.[1][2] Albinism is caused by mutations in one of several genes, and most types are inherited in an autosomal recessive manner.[1][3] Although there's no cure, people with the disorder can take steps to improve vision and avoid too much sun exposure.[1][2][3]
Last updated: 5/24/2016

Inheritance Inheritance


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Different types of albinism can have different patterns of inheritance, depending on the genetic cause of the condition. Oculocutaneous albinism (OCA) involves the eyes, hair and skin. Ocular albinism (OA), which is much less common, involves primarily the eyes, while skin and hair may appear similar or slightly lighter than that of other family members.[3] Mutations in several different genes, on different chromosomes, can cause different types of albinism.

OCA is inherited in an autosomal recessive manner. This means that two mutations are necessary for an individual to have OCA. Individuals normally have two copies of each numbered chromosome and the genes on them – one inherited from the father, the other inherited from the mother. Neither of these gene copies is functional in people with albinism. Each unaffected parent of an individual with an autosomal recessive condition carries one functional copy of the causative gene and one nonfunctional copy. They are referred to as carriers, and do not typically show signs or symptoms of the condition. Both parents must carry a defective OCA gene to have a child with albinism.[3] When two individuals who are carriers for the same autosomal recessive condition have children, with each pregnancy there is a 25% (1 in 4) risk for the child to have the condition, a 50% (1 in 2) risk for the child to be an unaffected carrier like each of the parents, and a 25% chance for the child to not have the condition and not be a carrier.

Ocular albinism type 1 is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome and one Y), one altered copy of the causative gene in each cell is sufficient to cause the characteristic features of ocular albinism, because males do not have another X chromosome with a working copy of the gene. Because females have two copies of the X chromosome, women with only one copy of a mutation in each cell usually do not experience vision loss or other significant eye abnormalities. They may have mild changes in retinal pigmentation that can be detected during an eye examination.[4]

Researchers have also identified several other genes in which mutations can result in albinism with other features. One group of these includes at least nine genes (on different chromosomes) leading to Hermansky-Pudlak Syndrome (HPS). In addition to albinism, HPS is associated with bleeding problems and bruising. Some forms are also associated with lung and bowel disease.[3] Like OCA, HPS is inherited in an autosomal recessive manner.
Last updated: 5/24/2016
Do you have updated information on this disease? We want to hear from you.

Treatment Treatment


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The goal of treatment is to address the symptoms present in each individual. People with albinism should protect their skin and eyes from the sun. This can be done by:[2][3] 

  • avoiding prolonged exposure to the sun,
  • using sunscreen with a high SPF rating (20 or higher),
  • covering up completely with clothing when exposed to the sun, and
  • wearing sunglasses with UV protection.
Individuals with vision problems may need corrective lenses. They should also have regular follow-up exams with an ophthalmologist. In rare cases, surgery may be needed. Individuals with albinism should also have regular skin assessments to screen for skin cancer or lesions that can lead to cancer.[1]
Last updated: 5/24/2016

Prognosis Prognosis


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Most people with albinism live a normal life span and have the same types of medical problems as the rest of the population.[2][3][5] Although the risk to develop skin cancer is increased, with careful surveillance and prompt treatment, this is usually curable.[5]
Last updated: 5/24/2016

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 Albinism. 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

  • National Alliance for Eye and Vision Research (NAEVR)
    1801 Rockville Pike, Suite 400
    Rockville, MD 20852
    Telephone: 240-221-2905
    Fax: 240-221-0370
    E-mail: jamesj@eyeresearch.org
    Website: http://www.eyeresearch.org/
  • The National Organization of Albinism and Hypopigmentation (NOAH)
    PO Box 959
    East Hampstead, NH 03826-0959
    Toll-free: 800-473-2310;
    Telephone: 603-887-2310
    E-mail: noah@albinism.org
    Website: http://www.albinism.org
  • The Skin Cancer Foundation
    149 Madison Avenue Suite 901
    New York, NY 10016
    Telephone: 212-725-5176
    Website: http://www.skincancer.org/
  • Vision of Children Foundation (VOC)
    12671 High Bluff Drive, Suite 300
    San Diego, CA 92130
    Telephone: 858-799-0810
    Fax: 858-794-2348
    E-mail: cdenofrio@visionofchildren.org
    Website: http://www.visionofchildren.org
Do you know of an organization? We want to hear from you.

Living With Living With


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Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Community Resources

  • The Job Accommodation Network (JAN) has information on workplace accommodations and disability employment issues related to this condition. JAN is a service of the Office of Disability Employment Policy in the U.S. Department of Labor.

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

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • 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. 
  • A Positive Exposure program called FRAME has an educational film about albinism that was created to change how medical information is presented to healthcare professionals. FRAME stands for Faces Redefining the Art of Medical Education. Positive Exposure is an organization that uses photography, film, and narrative to transform public perceptions of people living with genetic, physical, intellectual, and behavioral differences.

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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Albinism. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • NIH Hosts Rare Disease Day Event, Twitter Chat
    January 24, 2019

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. Submit a new question

  • Do individuals who have been diagnosed with albinism need medical treatment? What are the long term affects of this condition? See answer


Have a question? Contact a GARD Information Specialist.

References References


  1. Albinism. Mayo Clinic. April 19, 2014; http://www.mayoclinic.org/diseases-conditions/albinism/basics/definition/con-20029935.
  2. Haldeman-Englert C, Zieve D. Albinism. MedlinePlus. October 27, 2015; https://www.nlm.nih.gov/medlineplus/ency/article/001479.htm.
  3. Information Bulletin - What is Albinism?. NOAH. 2015; http://www.albinism.org/site/c.flKYIdOUIhJ4H/b.9253761/k.24EE/Information_Bulletin__What_is_Albinism.htm.
  4. Ocular Albinism. Genetics Home Reference. July 2007; http://ghr.nlm.nih.gov/condition/ocular-albinism.
  5. Bashour M. Albinism. Medscape Reference. March 22, 2015; http://emedicine.medscape.com/article/1200472-overview.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
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