Ocular albinism type 1
Other Names for this Disease
- Nettleship-Falls type ocular albinism
- X-linked ocular albinism
- X-linked recessive ocular albinism
Your QuestionI'm a woman who has ocular albinism 1. I'm the only person in my family that has it. My question is: I am pregnant and I want to know my chances of having children with ocular albinism? Will my sons or daughters be more affected?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
Occasionally females will have more significant signs and symptoms of ocular albinism type 1. This may be due to:
- A phenomenon called skewed X-chromosome inactivation
- Having inherited two mutations of the GPR143 gene
- Having a partial deletion of the X chromosome
To learn more about X inactivation please visit the following link. http://ghr.nlm.nih.gov/glossary=xchromosomeinactivation
We strongly recommend you discuss your concerns with a genetics professional A genetics professional will try to determine why you are affected and what the underlying cause of your condition is first. This information will be important in estimating your recurrence risk. Genetic professionals are a source of information for individuals and families regarding genetic diagnosis, natural history, treatment, mode of inheritance, and genetic risks to other family members. To find a genetics clinic, we recommend that you contact your primary doctor for a referral. Click here to learn more about genetic consultations.
The following online resources can also help you find a genetics professional in your community:
The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
The American College of Medical Genetics has a searchable database of US genetics clinics.
The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- Ocular albinism. Genetics Home Reference. 2007; http://ghr.nlm.nih.gov/condition=ocularalbinism. Accessed 7/24/2009.
- Gail Summers. X-linked recessive ocular albinism. Orphanet. April 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=54. Accessed 6/27/2013.
- Rosenberg T, Schwartz M. Ocular Albinism, X-Linked . GeneReviews. 2006; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=x-oa. Accessed 7/24/2009.