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Albinism

Albinism is a hereditary condition in which there is a defective development of pigment throughout the body. It is an X linked disorder.

It is of three types:

• Ocular: involving the eyes.
• Oculocutaneous: involving the eyes and the skin/hair.
• Cutaneous: involving the skin/hair.

Symptoms and Signs

• Iris looks pink due to absence of pigment.
• Dazzling glare
• Nystagmus
• Photophobia (intolerance to bright light)
• Defective vision
• Occasionally strabismus (squint)

Diagnosis

• Diagnosis is essentially clinical
• Visual acuity is usually poor
• Ophthalmoscopic examination of the fundus reveals depigmented areas
• Tyrosinase test is performed to look for the presence of enzyme Tyrosinase that may be a causative factor in albinism
• Genetic studies of parents of the affected child

Treatment

• There is no cure for this condition at present. The use of tinted glasses as a protection from glare may be an effective symptomatic management
• Refractive correction and Low Vision Aids may be used to maximize usable vision
• Surgical options are available for correction of strabismus.

Prevention

• Genetic counseling and testing of parents, with one affected child, must be done in order to estimate the risk of albinism in future children.
• The affected children must also avoid exposure to sunlight as they are predisposed to development of skin cancers later in their lives.
• Routine eye examination is a must.
  

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