What it is
It is inherited, usually when both parents carry a copy of the altered gene.
There is no cure, but glasses or other visual aids, regular eye checks and careful sun protection help people live full lives. Regular skin checks are important because of the higher risk of skin cancer.
Common signs
- Very pale skin and light hair
- Reduced vision, involuntary eye movements (nystagmus), squint
- Sensitivity to bright light
How it is usually diagnosed
- Usually recognised at birth or in early childhood
- An eye examination by an ophthalmologist
- Genetic testing in some cases
Records worth keeping
Keeping these together makes each appointment easier, especially when you see a new doctor:
- Eye examination reports and glasses prescriptions
- Dermatology reports from skin checks
- Genetic test results
- Educational support plans for vision
Questions to ask your doctor
- Which visual aids would help most?
- How often should eyes and skin be checked?
- What support is available at school or work?
When to get help right away
Call 112 or go to the nearest emergency department if you have:
- There are no emergency signs; see a doctor promptly about a skin patch that bleeds, grows or does not heal
This page is general information. It is not a diagnosis and does not replace a doctor who knows your history. Medfold keeps your records organised; it does not interpret them.