Oculocutaneous Albinism

Common Name(s)

Oculocutaneous Albinism

Oculocutaneous albinism is a group of conditions that affect the coloring of the hair and eyes.  Individuals affected by oculocutaneous albinism have very light skin and light-colored irises; they may also have vision problems such as decreased sharpness of vision, rapid eye movements (nystagmus), crossed eyes (strabismus), or increased sensitivity to light (photophobia).  All types of oculocutaneous albinism are caused by gene mutations that are inherited in an autosomal recessive manner.  Treatment includes covering the skin from sun exposure by using sunscreen and protective clothing and attending to vision problems by wearing glasses.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Oculocutaneous 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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Vision of Children Foundation

Our mission is to cure hereditary childhood blindness and other vision disorders, and to improve the lives of visually impaired individuals and their families.

Last Updated: 4 Mar 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Oculocutaneous 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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Vision of Children Foundation

Our mission is to cure hereditary childhood blindness and other vision disorders, and to improve the lives of visually impaired individuals and their families.

http://www.visionofchildren.org

Last Updated: 4 Mar 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 "Oculocutaneous Albinism" returned 73 free, full-text research articles on human participants. First 3 results:

Analysis of MC1R variants in Indian oculocutaneous albinism patients: highlighting the risk of skin cancer among albinos.
 

Author(s): Mainak Sengupta, Devroop Sarkar, Maitreye Mondal, Swapan Samanta, Asim Sil, Kunal Ray

Journal: J. Genet.. 2013 ;92(2):305-8.

 

Last Updated: 23 Aug 2013

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Ocular findings in patients with oculocutaneous albinism type ia with G47D tyrosinase gene mutation in Puerto Rico: a case report.
 

Author(s): Ferdinand Rodríguez-Agramonte, Natalio J Izquierdo, Carmen Cadilla

Journal: Bol Asoc Med P R. 2013 ;105(2):62-4.

 

Previous studies have suggested that the G47D mutation leads patients to develop Oculocutaneous albinism (OCA) type IA. This mutation has been described in the Canary Islands. Historically, there has been a migration from the Canary Islands to some regions of Puerto Rico.

Last Updated: 25 Jul 2013

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Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.
 

Author(s): Ai-Hua Wei, Dong-Jie Zang, Zhe Zhang, Xuan-Zhu Liu, Xin He, Lin Yang, Yi Wang, Zhi-Yong Zhou, Ming-Rong Zhang, Lan-Lan Dai, Xiu-Min Yang, Wei Li

Journal: J. Invest. Dermatol.. 2013 Jul;133(7):1834-40.

 

Oculocutaneous albinism (OCA) is a heterogeneous and autosomal recessive disorder with hypopigmentation in the eye, hair, and skin color. Four genes, TYR, OCA2, TYRP1, and SLC45A2, have been identified as causative genes for nonsyndromic OCA1-4, respectively. The genetic identity ...

Last Updated: 13 Jun 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 "Oculocutaneous Albinism" returned 4 free, full-text review articles on human participants. First 3 results:

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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Squamous-cell carcinoma in situ in a patient with oculocutaneous albinism.
 

Author(s): Emily Berger, Raegan Hunt, Julia Tzu, Rishi Patel, Miguel Sanchez

Journal:

 

A 36-year-old African man from Guinea with a history of albinism presented with a many-year history of scaling and erythema of the face, neck, and arms. The patient had light eyes, hair, and skin. Physical examination showed extensive photodamage. A skin biopsy specimen from the posterior ...

Last Updated: 27 Oct 2011

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Oculocutaneous albinism.
 

Author(s): Karen Grønskov, Jakob Ek, Karen Brondum-Nielsen

Journal:

 

Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, ...

Last Updated: 22 Jan 2008

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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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: 26 Mar 2014

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Vision Response to Dopamine Replacement
 

Status: Recruiting

Condition Summary: Albinism; Oculocutaneous Albinism

 

Last Updated: 13 Aug 2012

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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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