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

View Details
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

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 "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

View Details
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

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 "Ocular Albinism" returned 41 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

Go To URL
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

Go To URL
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

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 "Ocular Albinism" returned 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With Albinism
 

Status: Not yet recruiting

Condition Summary: Ocular Albinism (OA); Oculocutaneous Albinism (OCA)

 

Last Updated: 24 Jul 2014

Go to URL
Nitisinone for Type 1B Oculocutaneous Albinism
 

Status: Recruiting

Condition Summary: Albinism; Vision Loss

 

Last Updated: 6 Dec 2014

Go to URL
Vision Response to Dopamine Replacement
 

Status: Recruiting

Condition Summary: Albinism; Oculocutaneous Albinism

 

Last Updated: 13 Aug 2012

Go to URL