(Hypopigmentation; Oculocutaneous Albinism; Ocular Albinism)
- Type 1—complete absence of pigment. Skin, hair, and eyes lack all pigment from birth. Freckles or moles will not appear at any time during their lifetimes. This group is divided into several subtypes depending on associated characteristics.
- Type 2—decreased pigment, but may still have freckles and moles. This form of albinism is more common among persons of African descent. This form may be associated with such minor pigment loss that it is noticed only by looking at differences among other non-affected family members.
- Both Type 1 and Type 2 albinism are usually associated with visual problems including nystagmus (abnormal jumping movements of the eyes) and decreased visual acuity, which is frequently not fully improved with glasses or contact lenses.
- Type 3—reddish brown skin, reddish hair, and hazel or brown eyes, generally black South Africans.
- Type 4––similar to type 2, predominantly in Japanese persons.
- Ocular albinism––an X-linked albinism where there are vision problems without changes in skin or hair.
- Hermansky-Pudlak––in addition to albinism, persons also have lung, bowel, and bleeding problems.
- Chediak-Higashi––in addition to albinism, persons also have immune problems with defects in the immune system.
- Children of parents who have albinism
- Children of parents who do not have albinism, but carry the altered genes that cause this disorder
- A positive family history for albinism in a sibling or other relative
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- Eye problems, such as:
- Skin problems, including:
Hair problems, including:
- White hair
- Lighter than expected hair (often the forelock) being white
- Certain rare types of albinism, such as Hermansky-Pudlak syndrome, can cause other symptoms.
- People with the most common forms of Type 1 and Type 2 albinism and ocular albinism have a normal lifespan.
- An increased risk of skin cancer exists. With careful monitoring, this risk can be reduced. Since melanoma skin cancer may occur, it is important to have frequent skin exams by a dermatologist (skin specialist).
- Affected people usually have unaffected children unless married to another individual with albinism.
- Albinism does not cause a delay in development or intellectual disability.
Protect the skin:
- Sunburn and skin cancer risks can be reduced by avoiding the sun as much as possible
- Wear sunscreen with high SPF 30 or higher with UVA and UVB protection
- Cover as much skin as possible with clothing when exposed to the sun
Protect the eyes:
- Wear sunglasses with UV protection whenever exposed to the sun
- Sunglasses (UV protected) may relieve photophobia
Specific Treatment of Symptoms
Genetics Home Reference http://www.ghr.nlm.nih.gov
National Organization for Albinism and Hypopigmentation (NOAH) http://www.albinism.org
Canadian Dermatology Association http://www.dermatology.ca
Canadian Ophthalmological Society http://www.eyesite.ca
Hong ES, Zeeb H, Repacholi MH. Albinism in Africa as a public health issue. BMC Public Health . 2006 Aug 17;6:212.
Perry PK, Silverberg NB. Cutaneous malignancy in albinism. Cutis . 2001 May;67(5):427-30.
Rees JL. Genetics of hair and skin color. Annu Rev Genet . 2003;37:67-90.
Surace EM, Domenici L, Cortese K, Cotugno G, Di Vicino U, Venturi C, et al. Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer. Mol Ther . 2005 Oct;12(4):652-8.
- Reviewer: Brian Randall, MD
- Review Date: 03/2013 -
- Update Date: 00/31/2013 -