Albinism

Common Name(s)

Albinism

Albinism is a group of disorders that affects pigment of the skin, eyes, and hair. All types of albinism are genetic but are caused by changes (mutations) in different genes. Melanin is the substance that gives color to the skin, hair, and eyes. Due to a genetic change, people with albinism have either little or no melanin; however, melanin production may increase with age. Because of the lack of melanin, people with albinism are very sensitive to the sun and have an increased risk of skin cancer. Being affected by albinism can be emotionally and socially difficult in many cultures. Many feel isolated and alone, because they look different.

Common symptoms of albinism are white hair, pinkish skin, and red looking eyes. However, skin coloration may vary from white to brown and may be fairly similar to the skin color of the other family members. Some people with albinism may even have freckles or get a slight tan. Albinism can be connected to certain eye problems like astigmatism where the eye is shaped slightly abnormally, nystagmus where the eyes move back and forth involuntarily, and severe near or farsightedness.

Albinism is usually diagnosed shortly after birth due to physical appearance. Your baby’s doctor may pay special attention to an examination of the eyes and they may compare the skin color of your baby to other family members. There is no cure for albinism, but treatment and management will include protection of eyes and skin and careful monitoring of the skin for signs of skin cancer. Research is ongoing, so talk to your baby’s (child’s) doctor about the most current treatment options. Talk to a genetic counselor to learn more about your baby’s specific type of albinism, available genetic testing, and to understand the risk of passing albinism onto future pregnancies. Support groups are a good source of information and can help connect you with others affected by albinism.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Albinism" for support, advocacy or research.

Albinism Fellowship

1 Provide appropriate advice that enables people with albinism, or other interested parties, to acquire an accurate appreciation of the condition. 2 Raise positive awareness of albinism and when possible challenge events where the condition is misrepresented or portrayed incorrectly. 3 Provide appropriate support when necessary which enables people with albinism to improve their self-esteem.

Last Updated: 6 Jan 2013

View Details
Logo
National Organization for Albinism and Hypopigmentation (NOAH)

We provide information and support regarding albinism, promote public/professional education, facilitate networking and encourage research/funding that will lead to improved diagnosis/management.

Last Updated: 25 Oct 2012

View Details
werathah

To provide support and health education to patients and their families with genetic and congenital disorders

Last Updated: 1 May 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Albinism" for support, advocacy or research.

Albinism Fellowship

1 Provide appropriate advice that enables people with albinism, or other interested parties, to acquire an accurate appreciation of the condition. 2 Raise positive awareness of albinism and when possible challenge events where the condition is misrepresented or portrayed incorrectly. 3 Provide appropriate support when necessary which enables people with albinism to improve their self-esteem.

http://www.albinism.org.uk

Last Updated: 6 Jan 2013

View Details
Logo
National Organization for Albinism and Hypopigmentation (NOAH)

We provide information and support regarding albinism, promote public/professional education, facilitate networking and encourage research/funding that will lead to improved diagnosis/management.

http://www.albinism.org

Last Updated: 25 Oct 2012

View Details
werathah

To provide support and health education to patients and their families with genetic and congenital disorders

http://www.werathah.com

Last Updated: 1 May 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Albinism" returned 186 free, full-text research articles on human participants. First 3 results:

Quality of life in patients with oculocutaneous albinism.
 

Author(s): Marcus Maia, Beatrice Mussio Fornazier Volpini, Gabriela Alves dos Santos, Maria Josefa Penon Rujula

Journal: An Bras Dermatol. ;90(4):513-7.

 

The social reality of the albino needs to be more studied in Brazil, as myths and social segregation regarding this illness are likely to be found in the country, with psychosocial and medical implications.

Last Updated: 17 Sep 2015

Go To URL
Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.
 

Author(s): Faravareh Khordadpoor-Deilamani, Mohammad Taghi Akbari, Morteza Karimipoor, Gholamreza Javadi

Journal:

 

Albinism is a heterogeneous genetic disorder of melanin synthesis that results in hypopigmented eyes (in patients with ocular albinism) or hair, skin, and eyes (in individuals with oculocutaneous albinism). It is associated with decreased visual acuity, nystagmus, strabismus, and ...

Last Updated: 13 Jul 2015

Go To URL
Deep intronic GPR143 mutation in a Japanese family with ocular albinism.
 

Author(s): Takuya Naruto, Nobuhiko Okamoto, Kiyoshi Masuda, Takao Endo, Yoshikazu Hatsukawa, Tomohiro Kohmoto, Issei Imoto

Journal:

 

Deep intronic mutations are often ignored as possible causes of human disease. Using whole-exome sequencing, we analysed genomic DNAs of a Japanese family with two male siblings affected by ocular albinism and congenital nystagmus. Although mutations or copy number alterations of ...

Last Updated: 11 Jun 2015

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Albinism" returned 10 free, full-text review articles on human participants. First 3 results:

Cardiovascular actions of DOPA mediated by the gene product of ocular albinism 1.
 

Author(s): Yoshio Goshima, Fumio Nakamura, Daiki Masukawa, Sandy Chen, Motokazu Koga

Journal: J. Pharmacol. Sci.. 2014 ;126(1):14-20.

 

l-3,4-Dihydroxyphenylalanine (DOPA) is the metabolic precursor of dopamine, and the single most effective agent in the treatment of Parkinson's disease. One problem with DOPA therapy for Parkinson's disease is its cardiovascular side effects including hypotension and syncope, the ...

Last Updated: 22 Sep 2014

Go To URL
Mutational analysis of oculocutaneous albinism: a compact review.
 

Author(s): Balu Kamaraj, Rituraj Purohit

Journal: Biomed Res Int. 2014 ;2014():905472.

 

Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by either complete lack of or a reduction of melanin biosynthesis in the melanocytes. The OCA1A is the most severe type with a complete lack of melanin production throughout life, while the milder forms OCA1B, ...

Last Updated: 5 Aug 2014

Go To URL
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.
 

Author(s): James A Poulter, Musallam Al-Araimi, Ivan Conte, Maria M van Genderen, Eamonn Sheridan, Ian M Carr, David A Parry, Mike Shires, Sabrina Carrella, John Bradbury, Kamron Khan, Phillis Lakeman, Panagiotis I Sergouniotis, Andrew R Webster, Anthony T Moore, Bishwanath Pal, Moin D Mohamed, Anandula Venkataramana, Vedam Ramprasad, Rohit Shetty, Murugan Saktivel, Govindasamy Kumaramanickavel, Alex Tan, David A Mackey, Alex W Hewitt, Sandro Banfi, Manir Ali, Chris F Inglehearn, Carmel Toomes

Journal: Am. J. Hum. Genet.. 2013 Dec;93(6):1143-50.

 

Foveal hypoplasia and optic nerve misrouting are developmental defects of the visual pathway and only co-occur in connection with albinism; to date, they have only been associated with defects in the melanin-biosynthesis pathway. Here, we report that these defects can occur independently ...

Last Updated: 9 Dec 2013

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism
 

Status: Recruiting

Condition Summary: Albinism; Oculocutaneous Albinism; Foveal Hypoplasia; Hypopigmentation; Nystagmus

 

Last Updated: 11 May 2016

Go to URL
The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With Albinism
 

Status: Recruiting

Condition Summary: Ocular Albinism (OA); Oculocutaneous Albinism (OCA)

 

Last Updated: 11 Aug 2015

Go to URL
Nitisinone for Type 1B Oculocutaneous Albinism
 

Status: Recruiting

Condition Summary: Albinism; Vision Loss

 

Last Updated: 11 May 2016

Go to URL