Ocular Albinism

Common Name(s)

Ocular Albinism

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ocular 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 "Ocular 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 "Ocular Albinism" returned 42 free, full-text research articles on human participants. First 3 results:

Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism.
 

Author(s): Elisabetta De Filippo, Prashiela Manga, Anke C Schiedel

Journal: Invest. Ophthalmol. Vis. Sci.. 2017 Jun;58(7):3118-3126.

 

GPR143 regulates melanosome biogenesis and organelle size in pigment cells. The mechanisms underlying receptor function remain unclear. G protein-coupled receptors (GPCRs) are excellent pharmacologic targets; thus, we developed and applied a screening approach to identify potential ...

Last Updated: 20 Jun 2017

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GPR143 mutations in Chinese patients with ocular albinism type 1.
 

Author(s): Xiuhua Jia, Jin Yuan, Xiaoyun Jia, Shiqi Ling, Shiqiang Li, Xiangming Guo

Journal: Mol Med Rep. 2017 May;15(5):3069-3075.

 

The aim of the present study was to evaluate mutations of the G protein-coupled receptor 143 (GPR143) gene for ocular albinism type 1 (OA1) in Chinese patients. For the current study, 8 patients with OA1 were selected from the database of ocular genetic diseases. Genomic DNA of OA1 ...

Last Updated: 24 Mar 2017

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GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism.
 

Author(s): Alejandra Young, Uma Dandekar, Calvin Pan, Avery Sader, Jie J Zheng, Richard A Lewis, Debora B Farber

Journal:

 

Ocular albinism type 1 (OA), caused by mutations in the OA1 gene, encodes a G-protein coupled receptor, OA1, localized in melanosomal membranes of the retinal pigment epithelium (RPE). This disorder is characterized by both RPE macro-melanosomes and abnormal decussation of ganglion ...

Last Updated: 9 Sep 2016

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

Cardiovascular actions of DOPA mediated by the gene product of ocular albinism 1.
 

Author(s): Yoshio Goshima, Fumio Nakamura, Daiki Masukawa, Sandy Chen, Motokazu Koga

Journal: J. Pharmacol. Sci.. 2014 ;126(1):14-20.

 

l-3,4-Dihydroxyphenylalanine (DOPA) is the metabolic precursor of dopamine, and the single most effective agent in the treatment of Parkinson's disease. One problem with DOPA therapy for Parkinson's disease is its cardiovascular side effects including hypotension and syncope, the ...

Last Updated: 22 Sep 2014

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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: 21 Dec 2016

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Vision Response to Dopamine Replacement
 

Status: Recruiting

Condition Summary: Albinism; Oculocutaneous Albinism

 

Last Updated: 3 May 2017

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