ALBINISM
What is albinism?
Albinism is a defect of melanin production that results in little or no color (pigment) in the skin, hair and eyes. There are different kinds of albinism and they can be associated with syndromes. The oculocutaneous forms of albinism (1-4) are characterized by variation in pigmentation, visual problems, and are associated with sun sensitivity. The syndromes associated with albinism, such as Chediak-Higashi and Hermansky-Pudlak, are associated with more severe, systemic findings such as blood problems and increased risk of lung infections. There is no race predilection of albinism and it affects men and women equally. All forms of albinism are present at birth with the exception of some syndromes that can occur several years after birth. A person with albinism may have:
- Absence of color in the hair, skin or iris of the eye
- Lighter-than-normal skin and hair
- Patchy, missing skin color
- Crossed eyes (strabismus)
- Light sensitivity (photophobia)
- Rapid eye movements (nystagmus)
- Vision problems, or functional blindness
What causes albinism?
Albinism occurs when one of several gene mutations makes the body unable to produce or distribute melanin. Melanin is a natural pigment that gives color to skin, hair and the iris of the eye. The production of melanin is a long pathway involving many enzymes. If there is a mutation in any of the genes needed to make these enzymes, a form of albinism will result. The four forms of oculocutaneous albinism are missing different enzymes along the melanin pathway leading to their varying disease presentations. Albinism may be passed down through families.
Can albinism be treated?
No treatment is available for hypopigmentation in the skin, hair or eyes. Sunscreen use and avoidance of sun-exposure is recommended to prevent sun-damage. Visual impairment caused by albinism can be improved by using corrective lenses.
What are some of the complications of albinism?
The most common complication of oculocutaneous albinism is skin cancer, therefore patients with the disease should be screened frequently. Other complications include severe visual impairment.