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

Mutation analysis of a Chinese family with oculocutaneous albinism.
 

Author(s): Xiong Wang, Yaowu Zhu, Na Shen, Jing Peng, Chunyu Wang, Haiyi Liu, Yanjun Lu

Journal: Oncotarget. 2016 Dec;7(51):84981-84988.

 

Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by either complete lack of or a reduction in melanin biosynthesis in the skin, hair, and eyes. OCA1, the most common and severe type, is caused by mutations in the tyrosinase (TYR) gene. In this study, ...

Last Updated: 31 Dec 1969

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Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.
 

Author(s): Kevin J O'Brien, Jay Lozier, Andrew R Cullinane, Brigitte Osorio, Khanh Nghiem, Vladislav Speransky, Wadih M Zein, James C Mullikin, Anne T Neff, Karen L Simon, May Christine V Malicdan, William A Gahl, Lisa R Young, Bernadette R Gochuico

Journal: Mol. Genet. Metab.. 2016 11;119(3):284-287.

 

Hemophilia B, an X-linked disease, manifests with recurrent soft tissue bleeding episodes. Hermansky-Pudlak syndrome, a rare autosomal recessive disorder, is characterized by oculocutaneous albinism and an increased tendency to bleed due to a platelet storage pool defect. We report ...

Last Updated: 31 Dec 1969

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Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.
 

Author(s): Monika B Dolinska, Nicole J Kus, S Katie Farney, Paul T Wingfield, Brian P Brooks, Yuri V Sergeev

Journal: Pigment Cell Melanoma Res. 2017 01;30(1):41-52.

 

Oculocutaneous albinism type 1 (OCA1) is an autosomal recessive disorder caused by mutations in the tyrosinase gene. Two subtypes of OCA1 have been described: severe OCA1A with complete absence of tyrosinase activity and less severe OCA1B with residual tyrosinase activity. Here, we ...

Last Updated: 31 Dec 1969

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

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: 31 Dec 1969

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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: 31 Dec 1969

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Oculocutaneous albinism.
 

Author(s): Karen Gr√łnskov, 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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Vision Response to Dopamine Replacement
 

Status: Recruiting

Condition Summary: Albinism; Oculocutaneous Albinism

 

Last Updated: 3 May 2017

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Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism
 

Status: Recruiting

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

 

Last Updated: 8 Aug 2018

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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: 12 Dec 2017

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