Alton Street Surgery Patient Information Leaflet
Albinism
What is albinism?
Albinism
is the term used to describe a lack of pigment in the skin, hair, and/or eyes.
It is a genetic disorder that usually happens when a baby inherits two copies
of the affected gene, one from each parent, although it can very rarely occur
as a spontaneous genetic mutation. Albinism is rare, affecting about five in
100,000 people throughout the world. It affects all races, and is most common
in people of African, particularly Nigerian, descent.
Why does albinism happen?
Albinism is what is known as a recessive genetic disorder. Genes contain
all the information about a person's body and are stored on 23 pairs of
chromosomes (think of them as books or files in which information is kept). An
individual inherits 23 single chromosomes from each parent, which join together
into 23 pairs at conception. The gene for albinism is recessive, which means it
isn't powerful enough to “switch on” by itself - usually it is overpowered (known
as dominated) by the healthy gene on the other chromosome. Therefore you need
to inherit two copies of the albinism gene (ie one from each parent) in order
to be affected by it,
If you inherit only one gene you will be what is known as a carrier and you
will be unaffected, or only slightly affected (it is usually the eyes that are
affected in these cases - see below). Any child that you have will have a 50%
chance of inheriting the albinism gene from you and also of becoming a carrier;
if your partner is also a carrier, your child will stand a 50% chance of being
a carrier and a 25% chance of being albino. Parents who have had a child with
albinism may wish to talk to a genetic counsellor if they are planning another
baby - if this is the case, ask your doctor to refer you.
How does albinism affect the body?
In the most severe forms, the skin and hair are snowy white, and the eyes
colourless. In less severe forms the skin may be translucent at birth, but
darken slightly with age, with freckles frequently developing where the skin
that is exposed to sunlight. The hair may become light blond and eyes may be
very pale pink, blue, or grey. The eyes usually flicker constantly (known as
nystagmus) and, because of the lack of protective pigment inside the eyes, are
invariably sensitive to strong light (known as photophobia). Many people with
albinism are short sighted, and some are registered blind. Strabismus (squints
- when one or both eyes turn inwards or downwards) are also quite common.
Albino skin has little or no pigment to protect it from radiation in sunlight,
which means it is very prone to sun damage of all kinds, including burning,
premature wrinkles and lines, and cancer.
What else should I be aware of?
The visual problems that many albinos experience can lead to profound
learning difficulties with visual skills such as reading, writing, etc, for
obvious reasons. It is essential that such children are given the support they
need to reach their full potential - a school for the visually impaired may be
the best option in some cases. Bullying can be a problem for children with
albinism - children can be very cruel and tend to focus on anyone who is
different.
What can be done?
There is no cure for albinism, although it is possible that one day scientists
may be able to create the necessary enzyme to stimulate the production of
melanin in the body. In the mean time, corrective treatment for the eyes and
protection for the skin are the main ways of minimising potential problems:
Useful sources of information:
British Association of Behavioural
Optometrists, 27 St Georges' Road, Cheltenham GL50 3DT Tel: 01242 233500
Albino Fellowship, 9 Burnley Road, Hapton, Nr
Burnley Lancs BB11 5QR Tel: 01282 776145 (evenings only)
Genetic Interest Group, Farringdon Point,
29-35 Farringdon Road, London EC1M 3JB Tel: 0171 430 0090
This patient information leaflet has been adapted from an original
published by Clinnix Pro, Synigence PLC