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Albinism: Eyes
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Albinism is often suspected from a person's general appearance or through a family history of the disorder. A complete medical eye examination by an eye doctor, a general physical examination and a genetic evaluation (an investigation of the family history) can help diagnose and define the type of albinism.
Albinism can typically be diagnosed with a simple eye exam by an experienced ophthalmologist. They look for decreased amount of pigment in the retina, foveal hypoplasia and trans-illumination defects of the iris (see below). If the diagnosis is in question, a VEP can be used to rule out albinism (see below). Genetic testing can ... be performed. Although it is not yet perfected, it can sometimes help to identify the type of albinism and the genetic changes present. For more information on genetic testing, contact a qualified genetic counselor.
Albinism is a genetic condition resulting in a lack of pigmentation in the eyes, skin and hair. It is an inherited condition arising from the combination of recessive genes passed from both parents of an individual.
The eyes of many people with Albinism show unusual involuntary movements back and forth called Nystagmus. Often the effect of this can be reduced by tilting or turning the head to reduce the eye movements.
Albinism is a lifelong condition. Although there is no way to treat poor or absent pigment production or correct early poor development of central vision, proper eye evaluation and management can be useful.
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