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Ask Online Doctors Health Blog | All posts tagged 'Albinism'

Albinism

by Dr.Saurabh Joshi,MD 22. February 2011 14:08

Albinism is a condition where the tyrosine system fails to oxidize tyrosine through dopa to melanin, so the skin is fair, the hair white and the eyes pink. It is also called achromia, achromasia, or achromatosis. It divided into two group’s oculocutaneous albinism and ocular albinism. In Oculocutaneous albinism the pigment is lacking in the hair, eyes and skin and ocular albinism it only the eyes lack the pigmentation. Most albinism is hereditary.  Chance of a baby being born with albinism is low when one parent has albinism and the other parent does not. It affects both genders and is passed through the X-linked inheritance.

We have conditions in which a particular area of the body part is affected by albinism. These conditions include: Waardenberg syndrome where small part of the hair near the forehead turns white. Chediak-Higashi syndrome is a condition where the whole body lacks melanin with exception of a few. Tuberous sclerosis is a condition where as small area lack melanin and Hermansky-Pudlak Syndrome the lack of melanin ranges.

SIGNS AND SYMPTOMS

The type of albinism a person is having will determine the sign and symptoms. These include: Functional blindness, Involuntary and jerky repetition movement of the eyelids, Defective vision approaching blindness, Inability to be exposes the eyes to light, uncoordinated action of the muscles of the eyeball, Defective vision cause by inequality of one or more refractive surfaces, Patchy or absence of the melanin pigment leaving the areas pale,
White skin, Increase chance of skin cancer, Sensitive to sunburns, Visual sharpness decreases,

Part of the hair near the forehead turns white, No pigment in the hair resulting to white hair, Bleeding often, Chance of infection, Problem with passing stool,
Disorder of the nervous system, Problem with breathing and Deafness .

CAUSES

Mutations of certain genes are responsible for albinism. These genes offer coding instructions that are involved in the making of melanin. Melanocytes in the cell involved in the production of melanin and are found under the skin. This mutation will affect the normal production of the right melanin type thus leading to albinismhttp://www.mayoclinic.com/images/nav/clear.gif

 


DIAGNOSIS AND TREATMENT:

Diagnosis can be done by observation. This will depend on the type of albinism one may be having. Genetic testing is useful especially for parents to be prepared of any possibility. The treatment aims at reducing the severity of the symptoms like preventing the risk of sunburn by avoiding sun.

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About the author

Dr.Saurabh Joshi,MD  is a medical doctor offering live advice online. He is a partner in a Medical Private Practice and can answer questions related to almost all medical specialties.

He can be contacted for a Live Onine Consultation HERE