Albinism

Common Name(s)

Albinism

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. Albinism is caused by mutations in one of several genes, and most types are inherited in an autosomal recessive manner. Although there's no cure, people with the disorder can take steps to improve vision and avoid too much sun exposure.
 

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

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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

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werathah

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

Last Updated: 1 May 2013

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General Support Organizations

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How do you compare to others with this condition?

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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

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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

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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 163 free, full-text research articles on human participants. First 3 results:

[Oculocutaneous albinism: iris in transillumination].
 

Author(s): Hanan Handor, Mina Laghmari

Journal:

 

Last Updated: 26 Feb 2014

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Albinism-causing mutations in recombinant human tyrosinase alter intrinsic enzymatic activity.
 

Author(s): Monika B Dolinska, Elena Kovaleva, Peter Backlund, Paul T Wingfield, Brian P Brooks, Yuri V Sergeev

Journal:

 

Tyrosinase (TYR) catalyzes the rate-limiting, first step in melanin production and its gene (TYR) is mutated in many cases of oculocutaneous albinism (OCA1), an autosomal recessive cause of childhood blindness. Patients with reduced TYR activity are classified as OCA1B; some OCA1B ...

Last Updated: 6 Jan 2014

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A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree.
 

Author(s): C Y Cai, H Zhu, W Shi, L Su, O Shi, C Q Cai, C Ling, W D Li

Journal:

 

Ocular albinism is an X-linked inherited disease characterized by hypopigmentation of the iris and nystagmus. To identify a new disease-causing mutation of ocular albinism, we collected a Han Chinese pedigree with 7 male congenital nystagmus patients over 3 generations. Slit-lamp ...

Last Updated: 4 Dec 2013

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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 8 free, full-text review articles on human participants. First 3 results:

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

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Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism.
 

Author(s): Laura Dotta, Silvia Parolini, Alberto Prandini, Giovanna Tabellini, Maddalena Antolini, Stephen F Kingsmore, Raffaele Badolato

Journal:

 

Hypopigmentation disorders that are associated with immunodeficiency feature both partial albinism of hair, skin and eyes together with leukocyte defects. These disorders include Chediak Higashi (CHS), Griscelli (GS), Hermansky-Pudlak (HPS) and MAPBP-interacting protein deficiency ...

Last Updated: 16 Jan 2014

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DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
 

Author(s): Dimitre R Simeonov, Xinjing Wang, Chen Wang, Yuri Sergeev, Monika Dolinska, Matthew Bower, Roxanne Fischer, David Winer, Genia Dubrovsky, Joan Z Balog, Marjan Huizing, Rachel Hart, Wadih M Zein, William A Gahl, Brian P Brooks, David R Adams

Journal: Hum. Mutat.. 2013 Jun;34(6):827-35.

 

Oculocutaneous albinism (OCA) is a rare genetic disorder of melanin synthesis that results in hypopigmented hair, skin, and eyes. There are four types of OCA caused by mutations in TYR (OCA-1), OCA2 (OCA-2), TYRP1 (OCA-3), or SLC45A2 (OCA-4). Here we report 22 novel mutations in the ...

Last Updated: 22 May 2013

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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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 Nov 2014

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

Status: Not yet recruiting

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

 

Last Updated: 24 Jul 2014

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Nitisinone for Type 1B Oculocutaneous Albinism
 

Status: Recruiting

Condition Summary: Albinism; Vision Loss

 

Last Updated: 6 Dec 2014

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