Ocular albinism
At a minimum, these SNPs are known to be related, and others may also be
| Max Magnitude | |
|---|---|
| rs1057518763 | 0 |
| rs1057518787 | 0 |
| rs1057518841 | 0 |
| rs137852296 | 0 |
| rs137852297 | 0 |
| rs58933950 | 0 |
| rs62635018 | 0 |
| rs672601353 | 0 |
| rs771055145 | 0 |
Ocular albinism is a form of albinism which presents primarily in the eyes. There are multiple forms of ocular albinism (type-1/OA1 and type-2/OA2), which are clinically similar but caused by mutations in different genes. Both known genes (GPR143 and CACNA1F, associated with OA1 and OA2, respectively) are on the X chromosome.Wikipedia
Ocular albinism is characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth (stereoscopic vision). Although the vision loss is permanent, it does not worsen over time. Other eye abnormalities associated with this condition include rapid, involuntary eye movements (nystagmus); eyes that do not look in the same direction (strabismus); and increased sensitivity to light (photophobia). Many affected individuals also have abnormalities involving the optic nerves, which carry visual information from the eye to the brain.Genetics Home Ref
Since both OA genes are X-linked, in males (who have only one X chromosome) one altered copy of the GPR143 gene in each cell is sufficient to cause the characteristic features of ocular albinism. Because females have two copies of the X chromosome, women with only one copy of a GPR143 mutation in each cell usually do not experience vision loss or other significant eye abnormalities. They may have mild changes in retinal pigmentation that can be detected during an eye examination.Genetics Home Ref
