Diagnosing albinism  

In most cases, albinism will be obvious from a baby's characteristics when they are born.

Your baby’s hair, skin and eyes may be examined to look for signs of missing pigment, such as white hair or pale grey eyes.

Eye examination

As albinism can cause a number of eye conditions, the baby’s eyes will need to be examined to see how they are affected.

They may be referred to an ophthalmologist for these tests. Ophthalmologists are doctors who specialise in diagnosing and treating eye conditions. They mainly work in hospitals and hospital eye departments.

During the eye examination, the ophthalmologist may: 

  • use eye drops to enlarge the baby’s pupils
  • examine the baby’s eyes with a slit lamp, which is a microscope with a very bright light
  • look for signs of nystagmus (where the eyes move uncontrollably, usually from side to side)
  • look for signs of a squint (strabismus), which is where the eyes point in different directions
  • look for signs of astigmatism, where the cornea (front of the eye) is not a perfectly curved shape

Electrodiagnostic testing is also sometimes performed to help make the diagnosis. This is where small electrodes are stuck to the scalp to test the connections of the eyes to the part of the brain that controls vision.

As the child gets older, they will need regular eye tests to monitor their vision, and may be prescribed glasses or contact lenses. 

Page last reviewed: 04/11/2014

Next review due: 04/11/2017