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.
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van Dorp, D.B., Van Haeringen, N.J., Delleman, J.W. et al. Albinism: phenotype or genotype?. Doc Ophthalmol 56, 183–194 (1983). https://doi.org/10.1007/BF00154728
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DOI: https://doi.org/10.1007/BF00154728