Abstract
As part of a combined ophthalmological, genetic, clinical, biochemical, ultrastructural and electro-physiological study of albinism we have examined over one hundred albinos, together with their heterozygote family members. Given this substantial number, we have developed a diagnostic protocol to facilitate albino classification and heterozygote detection. The major difficulty in the detection and differential diagnosis of albinism is that for a given albino, not all symptoms, either ophthalmological or cutaneous, may be manifest, whereas several may be in a non-albino. To compensate for the wide diversity in albino expression, diagnosis is typically based on the results of combinations of tests.
Key words
albinism albino skin albino misrouting tyrosinase assay hairbulb incubation testPreview
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References
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