Ocular Albinism

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Ocular Albinism is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Ocular albinism type I (OA1), or X-linked ocular albinism, is the most common form of ocular albinism. Ocular albinism is a genetic disorder characterized by vision abnormalities in affected males. Vision deficits are present at birth and do not become more severe over time. Affected individuals have normal skin and hair pigmentation. Ocular albinism is inherited as an X-linked recessive genetic condition and caused by mutations in the G protein-coupled receptor 143 (GPR143) gene.

Supporting Organizations

Albinism Fellowship

P.O. Box 77
Lancashire, BB11 5GN
United Kingdom
Tel: 7919543518
Tel: 447919543518
Email: support@albinism.org.uk
Website: http://www.albinism.org.uk

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

March of Dimes

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Email: AskUs@marchofdimes.org or preguntas@nacersano.org
Website: http://www.marchofdimes.org and nacersano.org

NIH/National Institute of Child Health and Human Development

31 Center Dr
Building 31, Room 2A32
Bethesda, MD 20892
Fax: (866)760-5947
Tel: (800)370-2943
Email: NICHDInformationResourceCenter@mail.nih.gov
Website: http://www.nichd.nih.gov/

National Organization for Albinism and Hypopigmentation (NOAH)

PO Box 959
East Hempstead, NH 03826-0959
Tel: (603)887-2310
Fax: (800)648-2310
Tel: (800)473-2310
Email: noah@albinism.org
Website: http://www.albinism.org

Vision of Children Foundation

11975 El Camino Real
Suite 104
San Diego, CA 92130
Tel: (858)314-7917
Fax: (858)314-7920
Email: info@visionofchildren.org
Website: http://www.visionofchildren.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  8/18/2015
Copyright  2015 National Organization for Rare Disorders, Inc.