Albinism

image showing depigmented iris.
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:
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• Ocular: involving the eyes. 
• Oculocutaneous: involving the eyes and the skin/hair. 
• Cutaneous: involving the skin/hair. 
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Symptoms and Signs
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• Iris looks pink due to absence of pigment. 
• Dazzling glare 
• Nystagmus 
• Photophobia (intolerance to bright light) 
• Defective vision 
• Occasionally strabismus (squint) 
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Diagnosis
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• 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 
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Treatment
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• 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. 
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Prevention 
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• 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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