Albinism: Hypopigmentation; Oculo-cutaneous albinism; Ocular albinism

Albinism is a group of genetic disorders in which the affected individual has reduced or absent pigmentation. It is thought that about 1 in 20,000 people are affected with albinism. All ethnic groups and both genders appear to be affected by albinism which presents in the neonatal period.

Albinism is caused when there is a fault in the production of melanin (any of the range of black, dark brown, reddish brown, or yellow pigments).

There are two main types of albinism:

Ocular albinism (OA) predominantly affects the eyes with affected individuals often having only slightly lighter skin and hair colour than other family members and it usually leads to nystagmus. Many individuals may have been given a diagnosis of 'idiopathic nystagmus'.

Oculo-cutaneous albinism (OCA) affects the eyes and skin to a very variable extent. Features include:

• Reduced pigmentation of the iris and retina of the eye;
• Lighter than usual hair and skin. Typically, individuals may have no pigmentation and have skin that does not tan and snow-white hair. However some individuals have brown hair and can tan.

There are rare variants of OCA:

• Hermansky-Pudlak syndrome which presents with easy bruising and affected individuals may have lung, bowel and bleeding features;
• Chediak-Higashi syndrome which there is an increased susceptibility to infection and bleeding.

People with albinism may have:

• Reduced visual acuity (the ability to see detail at close and long distance) see entry, Vision Disorders in Childhood;
• Nystagmus;
• Photophobia (abnormal sensitivity to light);
• Strabismus (inability of one eye to attain vision with the other; squint).

Diagnosis can be made by the observation of the characteristic features of the disorders. An ophthalmologist will be involved in identifying the ocular features and abnormalities of the visual system via a Visually Evoked Potential (VEP) test which shows a detailed record of electrical activity in the visual pathways to the brain. Genetic tests are not yet available except rarely on a research basis.

Treatment for albinism is symptomatic and aims to ameliorate the problems caused by the disorder. High sun protection factor (SPF) sunscreen, sun glasses and clothing to protect the skin can all be helpful.

A range of telescopic and microscopic optical devices can provide great improvement in acuity by spreading the features of the object being viewed over a larger area of the abnormal macula (the central part of the retina).

Inheritance patterns
Ocular albinism is X-linked. Oculo-cutaneous albinism is autosomal recessive. Genetic counselling should be sought.

Prenatal diagnosis
Not currently available.

Medical text written August 2006 by Contact a Family. Approved August 2006 by Miss Isabelle Russell-Eggitt FRCS FRCOphth, Consultant Ophthalmic Surgeon, Great Ormond Street Hospital, London, UK.

ALBINISM FELLOWSHIP (UK & Ireland)

Albinism Fellowship (UK & Ireland)
PO Box 77
Burnley
BB11 5GN
Tel: 01282 771900 Helpline (Answer phone)
e-mail:info@albinism.org.uk
Web: http://www.albinism.org.uk

The Fellowship is a Scottish Registered Charity No. SC009443, established in 1979. The Fellowship provides advice and support for people with an interest in albinism and a range of appropriate services that provide information, raise awareness, challenge misrepresentation, improve self-esteem and give opportunities to meet other people affected by the condition. The Fellowship is a voluntary self-help, sociable and positive organisation that aims to provide information and support for people with an appropriate interest in the condition. Their vision is that all people with albinism have the opportunity to realise their full potential.

Group details last updated February 2008.