It is possible that the main title of the report Ocular Albinism is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Nettleship-Falls ocular albinism
- ocular albinism type 1
- X-linked ocular albinism
- X-linked congenital nystagmus 6 (NYS6)
Ocular albinism type 1 (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.
National Organization for Albinism and Hypopigmentation
PO Box 959
East Hempstead, NH 03826-0959
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
P.O. Box 77
Lancashire, BB11 5GN
NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
Bethesda, MD 20892
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Vision of Children Foundation
11975 El Camino Real
San Diego, CA 92130
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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
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Last Updated: 4/25/2012
Copyright 2008, 2012 National Organization for Rare Disorders, Inc.