Albinism (patient information)
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Albinism |
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Albinism On the Web |
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For the WikiDoc page for this topic, click here Template:DiseaseDisorder infobox Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shadan Mehraban, M.D.[2]
Overview
Albinism is an inherited disease which is caused by defective melanin production. Melanin gives color to skin, hair, and eyes.
What are the symptoms of Albinism?
Symptoms of albinism include both dermal and eye features:
- White or hypo-pigmented hair
- White or hypo-pigmented eyelashes
- White or hypo-pigmented skin
- Photophobia
- Decreased visual acuity
- Pink or hypo pigmented eyes
- Strabismus
What causes Albinism?
Albinism is caused by mutation of genes that lead to defect in melanin synthesis. This mutation is inherited through the family.
Types of albinism
Types of albinism include:
- Oculocutaneous albinism; causes white or hypopigmentation of skin, hair, and eyes. The hypopigmentaion is usually seen when patients are compared to other family members
- Hermansky-Pudlak syndrome; causes white or hypopigmentation of skin, hair, and eyes along with bleeding and lung problems
- Chediak-Higashi syndrome; Causes white or hypopigmentation of skin, hair, and eyes. It increases susceptibility to infection along with nerve defects and bleeding problems
- Ocular albinism; causes hypopigmentation of eyes, nystagmus, strabismus, decreased visual acuity, and photophobia
Localized albinism
Other complex diseases may lead to loss of coloring in only a certain area (localized albinism). These conditions include:
- Chediak-Higashi syndrome (lack of coloring all over the skin, but not complete)
- Tuberous sclerosis (small areas without skin coloring )
- Waardenburg syndrome (often a lock of hair that grows on the forehead, or no coloring in one or both irises)
Who is at highest risk?
Individuals with familial history of albinism are at risk of albinism
When to seek urgent medical care?
- If you notice skin changes, they might be possible developing skin cancer
- If you notice a change in your vision or light sensitivity
Diagnosis
Genetic testing is the most definite test for diagnosis. Additionally, ophthalmology examination is considered for evaluation of eye features.
Treatment options
The treatment options include:
- Avoidance of prolonged sun exposure
- Sunglasses with UV protection for light sensitivity
- Upon sun exposure, application of sunscreen with at least SPF 30+ every 2 hours is recommended
- Glasses to correct vision problems and eye position
- Eye muscle surgery for severe strabismus
Diseases with similar symptoms
Where to find medical care for Albinism?
Directions to Hospitals Treating Albinism
Prevention of Albinism
People with a family history of albinism should consider genetic counseling before pregnancy
What to expect (Outlook/Prognosis)?
Patient with albinism has normal life expectancy
Possible complications
- Decreased visual acuity
- Skin cancer