Oculocutaneous albinism type 2

Common Name(s)

Oculocutaneous albinism type 2, Tyrosinase-positive oculocutaneous albinism

Oculocutaneous albinism type 2 is a genetic condition that affects the coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. This condition also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; nystagmus and strabismus; and increased sensitivity to light (photophobia). This condition is caused by mutations in the OCA2 gene and is inherited in an autosomal recessive fashion.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Oculocutaneous albinism type 2" 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

 

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 "Oculocutaneous albinism type 2" 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

 

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 "Oculocutaneous albinism type 2" returned 5 free, full-text research articles on human participants. First 3 results:

Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.
 

Author(s): Pedro J Santiago Borrero, Yolanda Rodríguez-Pérez, Jessicca Y Renta, Natalio J Izquierdo, Laura Del Fierro, Daniel Muñoz, Norma López Molina, Sonia Ramírez, Glorivee Pagán-Mercado, Idith Ortíz, Enid Rivera-Caragol, Richard A Spritz, Carmen L Cadilla

Journal: J. Invest. Dermatol.. 2006 Jan;126(1):85-90.

 

Hermansky-Pudlak syndrome (HPS) (MIM #203300) is a heterogeneous group of autosomal recessive disorders characterized by oculocutaneous albinism (OCA), bleeding tendency, and lysosomal dysfunction. HPS is very common in Puerto Rico (PR), particularly in the northwest part of the island, ...

Last Updated: 18 Jan 2006

Go To URL
MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).
 

Author(s): Richard A King, Rebecca K Willaert, Ramona M Schmidt, Jacy Pietsch, Sarah Savage, Marcia J Brott, James P Fryer, C Gail Summers, William S Oetting

Journal: Am. J. Hum. Genet.. 2003 Sep;73(3):638-45.

 

The heterogeneous group of disorders known as oculocutaneous albinism (OCA) shares cutaneous and ocular hypopigmentation associated with common developmental abnormalities of the eye. Mutations of at least 11 loci produce this phenotype. The majority of affected individuals develop ...

Last Updated: 20 Aug 2003

Go To URL
Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients.
 

Author(s): Tamio Suzuki, Yoshinori Miyamura, Jun Matsunaga, Hiroshi Shimizu, Yasuhiro Kawachi, Naoko Ohyama, Osamu Ishikawa, Tomoyuki Ishikawa, Hiroshi Terao, Yasushi Tomita

Journal: J. Invest. Dermatol.. 2003 May;120(5):781-3.

 

Type 2 oculocutaneous albinism (OCA2) is an autosomal recessive disorder that results from mutations in the P gene that codes one of the melanosomal proteins, the function of which remains unknown. In this paper, we report the frequency of OCA2, 8%, among the Japanese albino population, ...

Last Updated: 25 Apr 2003

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 "Oculocutaneous albinism type 2" returned 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.