Albinism in plain English

I thought I should add a quick layman’s translation of the problems associated with albinism.

Melanin, or lack of it is the underlying problem in albinism. Melanin = pigment. It is more commonly associated with colouring and basically the more pigment you have, the darker your skin, hair and eyes. However melanin is also essential in the development of the eye, reduced or absent pigment prevents the eye from maturing properly both before and after birth. It also reduces the body’s natural defence to sunlight affecting the eyes and skin.

I will briefly describe, in plain English the problems in the albinism eye to help you understand why glasses cannot completely correct the vision. Basically the problems our children have are:

Foeval immaturity- the part of the eye that makes a clear picture is called the fovea, it cannot develop without pigment. The result is loss of quality to vision, my children need to get much closer to a street sign than me to make out what it says.

Nystagmus – wobbly eyes.
The amount of movement varies considerably and is involuntary, some move all the time and may be the first indicator that there is a vision problem, others hardly have any movement at all and are barely noticeable.

Strabismus – squint.
Whilst some squints are muscular, the squint in albinism is often caused by a wiring poblem sending nerve signals from the eye to the brain. The squint can be inwards (convergent) or outwards (divergent). It can also alternate from eye to eye. The hospital will monitor this to see if surgery is an appropriate step for vision improvement and or cosmetic appearance.

Myopia / hypermetropia – short / longsighted
People with albinism are often long or short sighted. Glasses can help this deficit but rarely correct it completely.

Photophobia – sensitivity to light.
Usually light enters the eye through the pupil, which is why the pupil dilates (gets bigger) at night to help you see more. In albinism, the iris lacks pigment, if pigment is present it does not work properly. This causes light to flood into the eye through the pupil and iris, the light then bounces around the eyes. When there is very little pigment in the iris it can be transparent, you can see the light reflecting off the back of the eye giving the illusion of pink / violet pupils. Even with blue eyes in albinism, you often see the red reflection in certain lighting. This is called transillumination of the retina and is often a diagnosing factor in albinism.

As they eyes do not work together properly, depth perception can be affected, making it more difficult to see slopes and steepness of stairs. Also it is harder to judge the exact position of obstacles if the brain is using the image of one eye, try walking through a doorway with one eye closed.

OK if this is clearer than mud and you want to know more, this is a great link
http://albinism.med.umn.edu/facts.htm#eyeprob