title: Albinism: phenotype or genotype?
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.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000417:Albinism / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005074:Evoked Potentials, Visual; D005128:Eye Diseases / Q000175:diagnosis*; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D006197:Hair / Q000201:enzymology; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D014442:Monophenol Monooxygenase / Q000032:analysis; D012867:Skin / Q000648:ultrastructure
chemical_list: D014442:Monophenol Monooxygenase