Albinism: phenotype or genotype?

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 fa...

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Bibliographic Details
Published in:Documenta ophthalmologica 1983-12, Vol.56 (1-2), p.183-194
Main Authors: VAN DORP, D. B, VAN HAERINGEN, N. J, DELLEMAN, J. W, APKARIAN, P, WESTERHOF, W
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Albinism - classification
Albinism - diagnosis
Albinism - genetics
Biological and medical sciences
Child
Child, Preschool
Dermatology
Evoked Potentials, Visual
Eye Diseases - diagnosis
Female
Genetic Carrier Screening - methods
Hair - enzymology
Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue
Humans
Male
Medical sciences
Microscopy, Electron
Middle Aged
Monophenol Monooxygenase - analysis
Skin - ultrastructure
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Summary: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.
ISSN:0012-4486
1573-2622
DOI:10.1007/BF00154728