Oculocutaneous albinism

الوصف

Oculocutaneous albinism is a group of conditions that affect the colour of (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. 

Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); eyes that do not point in the same direction (strabismus); and increased sensitivity to light (photophobia).

Researchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye colour changes, and by their genetic cause. Oculocutaneous albinism type 1 is characterised by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually pale and hair may be light yellow, blond, or light brown. Type 3 causes reddish-brown skin, ginger or red hair, and hazel or brown irises. Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen in people with type 2.

There are several additional, rare types of oculocutaneous albinism.

Inheritance patterns

The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.

Related genes

• OCA2

• TYR

• TYRP1

• SLC45A2

• MC1R

• DCT

• LRMDA

• SLC24A5

Other names

Albinism, oculocutaneous

OCA