How My Ocular Albinism Works

The transmission is X linked. Confirmation of Ocular Albinism OA2 or OA1 requires genetic mapping. OA1 and OA2 are fairly similar in presentation except OA2 tends to have myopia and astigmatism. Which is present in my occurrence. OA1 usually maps to Xp22 (small arm of chromosome 22). OA2 usually maps to Xp11. OA3 (which is not x linked) is completely unknown as to the locus.
The prevalence studies are between 1:50,000 males and 1:150,000 males depending on who you ask. 80% of female carriers have some mild pigmentation changes and some have iris changes called transillumination (where the light projected shows through “window defects” in their iris.
The Hermansky Pudlak syndrome and chediak-higashi types are nothing my family should worry about. That is just with ocular cutanenous forms, so if your doing research on the internet to read about it and are scared by these two types being life threatening. . . don’t be worried.
Genetic transmission of my families form of Ocular Albinism is transmitted as follows:
If the Mother Carries the Gene

• 50% Change Daughters will be carriers of the gene
• 50% Change Son’s will be affected with Ocular Albinism
• If the mother is not a carrier of the gene, the gene will not be passed to either sons or daughters

If The Father is affected by ocular albinism

• 100% Daughters will be carriers
• Sons will not be carriers or affected by ocular albinism
• If the father is not affected the gene is not present to be passed to either sons or daughters.

There is an opportunity to support research. I have given a blood sample to support research which will eventually allow for testing of potential carriers. Further samples from affected males will assist with this activity.
Contact me if your related and want to know more.