National Organization for Rare Disorders, Inc.
- 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
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
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Last Updated: 4/25/2012
Copyright 2008, 2012 National Organization for Rare Disorders, Inc.
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