It is a genetic disorder which causes complete or partial absence of melanin pigment characterized by whitening of skin in the eyes, hairs, cuticles. Melanin is a substance that is found in our skin, hair, and eyes which protects us from harmful UV rays from sunlight, that may cause skin cancer. Albinism is also known as achromatosis or achromia or achromasia.

CAUSES:

Albinism is caused due to deficiency of an enzyme tyrosinase-which is a copper-containing enzyme which is responsible for the synthesis of melanin pigment by producing OCA1 genotype. It is also caused due to a mutation in the human TRP-1 gene which is responsible for the synthesis of melanin pigment and therefore results in a third OCA3 genotype –oculocutaneous albinism. It can be recessive as well as an X-linked genetic disorder.

RISK FACTORS:

• Genetic mutation
• Syndromes such as Chediak Higashi, Griscelli.
• Children
• Sunlight- UV rays

SYMPTOMS:

• Sensitivity to light known as photophobia.
• Nystagmus
• Lighter pale skin.
• Light blonde hair
• Pale blue/brown/grey eyes,
• Crossed eyes-strabismus
• Vision problems
• Blindness or impaired vision
• Patchy skin with the absence of color

DIAGNOSIS:

• It can be diagnosed by clinical examination of the skin by the doctor.
• An ophthalmologist will provide eye examination for photophobia, nystagmus, strabismus.
• Genetic testing
• Electrodiagnostic testing

TREATMENT:

• The first and important thing is to protect the eyes from the sun to prevent further damage by wearing sunglasses.
• Make sure to avoid seating in places where lighting and optical aids are not favorable especially for children in classrooms
• Sunscreen with high SPF or protective clothes can be a good idea before going out in the sunlight to protect the skin from UV rays.
• To correct the vision problems, prescribed contact lenses or eyeglasses can be worn.
• Surgery such as tenotomy can be done to correct horizontal eye muscles for nystagmus can be done.

COMPLICATION:

People with albinism have a higher risk of getting skin cancer such as melanomas. It’s always a good idea to consult your doctor if you see any new lump or patches of skin that changes in color or size or shapes. Important preventive measures one can take are:

• Always use a sunscreen oh high SPF greater than 30 to prevent further damage
• Try to limit outdoor activities because of their sensitivity of eyes and skin to sun rays.