Ocular albinism type 1

Common Name(s)

Ocular albinism type 1

Ocular albinism type 1 is a genetic condition that primarily affects the eyes. Signs and symptoms may include reduced coloring (pigment) of the iris and retina, poor vision, poor depth perception, rapid, involuntary eye movements, eyes that do not look in the same direction (strabismus), and increased eye sensitivity to light. Type 1 is the most common form of ocular albinism and is found much more commonly in males. It is usually caused by mutations in the GPR143 gene which is found on the X chromosome.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ocular albinism type 1" 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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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ocular albinism type 1" 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 "Ocular albinism type 1" returned 7 free, full-text research articles on human participants. First 3 results:

The ocular albinism type 1 (OA1) GPCR is ubiquitinated and its traffic requires endosomal sorting complex responsible for transport (ESCRT) function.
 

Author(s): Francesca Giordano, Sabrina Simoes, Graça Raposo

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2011 Jul;108(29):11906-11.

 

The function of signaling receptors is tightly controlled by their intracellular trafficking. One major regulatory mechanism within the endo-lysosomal system required for receptor localization and down-regulation is protein modification by ubiquitination and downstream interactions ...

Last Updated: 20 Jul 2011

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The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition.
 

Author(s): Francesca Giordano, Ciro Bonetti, Enrico M Surace, Valeria Marigo, Graça Raposo

Journal: Hum. Mol. Genet.. 2009 Dec;18(23):4530-45.

 

OA1 (GPR143; GPCR, G-protein-coupled receptor), the protein product of the ocular albinism type 1 gene, encodes a pigment-cell-specific GPCR that localizes intracellularly to melanosomes. OA1 mutations result in ocular albinism due to alterations in melanosome formation, suggesting ...

Last Updated: 5 Nov 2009

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The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells.
 

Author(s): Ilaria Palmisano, Paola Bagnato, Angela Palmigiano, Giulio Innamorati, Giuseppe Rotondo, Domenico Altimare, Consuelo Venturi, Elena V Sviderskaya, Rosanna Piccirillo, Massimiliano Coppola, Valeria Marigo, Barbara Incerti, Andrea Ballabio, Enrico M Surace, Carlo Tacchetti, Dorothy C Bennett, Maria Vittoria Schiaffino

Journal: Hum. Mol. Genet.. 2008 Nov;17(22):3487-501.

 

The protein product of the ocular albinism type 1 gene, named OA1, is a pigment cell-specific G protein-coupled receptor exclusively localized to intracellular organelles, namely lysosomes and melanosomes. Loss of OA1 function leads to the formation of macromelanosomes, suggesting ...

Last Updated: 21 Oct 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 "Ocular albinism type 1" returned 0 free, full-text review articles on human participants.

 
 
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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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