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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How do you compare to others with this condition?

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

A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree.
 

Author(s): C Y Cai, H Zhu, W Shi, L Su, O Shi, C Q Cai, C Ling, W D Li

Journal:

 

Ocular albinism is an X-linked inherited disease characterized by hypopigmentation of the iris and nystagmus. To identify a new disease-causing mutation of ocular albinism, we collected a Han Chinese pedigree with 7 male congenital nystagmus patients over 3 generations. Slit-lamp ...

Last Updated: 4 Dec 2013

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Albinism: particular attention to the ocular motor system.
 

Author(s): Richard W Hertle

Journal: Middle East Afr J Ophthalmol. ;20(3):248-55.

 

The purpose of this report is to summarize an understanding of the ocular motor system in patients with albinism. Other than the association of vertical eccentric gaze null positions and asymmetric, (a) periodic alternating nystagmus in a large percentage of patients, the ocular motor ...

Last Updated: 9 Sep 2013

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Ocular findings in patients with oculocutaneous albinism type ia with G47D tyrosinase gene mutation in Puerto Rico: a case report.
 

Author(s): Ferdinand Rodríguez-Agramonte, Natalio J Izquierdo, Carmen Cadilla

Journal: Bol Asoc Med P R. 2013 ;105(2):62-4.

 

Previous studies have suggested that the G47D mutation leads patients to develop Oculocutaneous albinism (OCA) type IA. This mutation has been described in the Canary Islands. Historically, there has been a migration from the Canary Islands to some regions of Puerto Rico.

Last Updated: 25 Jul 2013

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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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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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: 22 Jan 2015

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X-chromosome Inactivation, Epigenetics and the Transcriptome
 

Status: Recruiting

Condition Summary: Turner Syndrome; Klinefelter Syndrome; Triple X Syndrome; 47 XYY Syndrome; Aortic Aneurysm

 

Last Updated: 19 Dec 2013

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Nitisinone for Type 1B Oculocutaneous Albinism
 

Status: Recruiting

Condition Summary: Albinism; Vision Loss

 

Last Updated: 6 Dec 2014

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