Oculocutaneous albinism type 1

Common Name(s)

Oculocutaneous albinism type 1

Oculocutaneous albinism type 1 is a condition that affects the coloring of the skin, hair, and eyes. Signs and symptoms include very fair skin, white hair, an increased risk for skin damage with sun exposure, reduced vision (sharpness), light colored irises, nystagmus, and photophobia (eyes are sensitive to light). It is caused by changes in the TYR gene and is inherited in an autosomal recessive fashion.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Oculocutaneous albinism type 1" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 type 1" returned 6 free, full-text research articles on human participants. First 3 results:

A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China.
 

Author(s): Yu-Ying Lin, Ai-Hua Wei, Zhi-Yong Zhou, Wei Zhu, Xin He, Shi Lian

Journal: Chin. Med. J.. 2011 Oct;124(20):3358-61.

 

The mutation of the tyrosinase (TYR) gene results in oculocutaneous albinism type 1 (OCA1), an autosomal recessive genetic disorder. OCA1 is the most common type of OCA in the Chinese population. Hence, the TYR gene was tested in this study. We also delineated the genetic analysis ...

Last Updated: 17 Nov 2011

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Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients.
 

Author(s): Moumita Chaki, Mainak Sengupta, Maitreyee Mondal, Abhisek Bhattacharya, Shampa Mallick, Ranjan Bhadra, , Kunal Ray

Journal: J. Invest. Dermatol.. 2011 Jan;131(1):260-2.

 

Last Updated: 15 Dec 2010

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Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency.
 

Author(s): Despina Contopoulos-Ioannidis, Athanasios Evangeliou, Henk ter Laak, Bert de Vries, Rolph Pfundt, Hans Scheffer, Jan Smeitink, Meropi Tzoufi, Alexandros Makis, Evangelos Marinos, Richard Hess, David Adams, Marjan Huizing, Eva Morava

Journal: Am. J. Med. Genet. A. 2008 Dec;146A(23):3100-3.

 

Last Updated: 27 Nov 2008

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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 type 1" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Nitisinone for Type 1B Oculocutaneous Albinism
 

Status: Recruiting

Condition Summary: Albinism; Vision Loss

 

Last Updated: 14 Mar 2014

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