Albinism
Diagnosing albinism
Source: NHS
In this topic (5)
In most cases, albinism will be obvious from a baby's characteristics whenthey are born.
Your babys 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 babys 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 babys pupils
- examine the babys 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 iswhere 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.
Articles for Albinism
Causes of albinism
Albinism is caused by a lack of the pigment melanin, which gives hair, skin and eyes their colour.
Diagnosing albinism
In most cases, albinism will be obvious from a baby's characteristics when they are born.
Introduction
Albinism is an inherited condition that affects the production of melanin, the pigment that colours the skin, hair and eyes.
Signs and symptoms of albinism
In albinism, the lack of the pigment melanin affects the colour of a person's hair, skin and/or eyes.
Treatment and support for people with albinism
Albinism itself does not need to be treated, but the associated skin and eye problems often do.