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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Apkarian P, Reits D, Spekieijse H and van Dorp DB (1983) A decisive electrophysiological test for human albinism. Electroenceph Clin Neurophysiol 55:513–531
Broodbakker JTW, Westerhof W and van Dorp DB (1983) Ultrastructure of the skin of human albinos. Ophthal Paediat Genet 2:95–107
Creel D, Witkop CJ and King RA (1974) Asymmetric visually evoked potentials in human albinos: evidence for visual system anomalies. Invest Ophthal 13:430–440
Dorp DB van, Haeringen NJ van, and Glasius E (1982) Evaluation of hairbulb incubation test and tyrosinase assay in the classification of albinism. Ophthal Paediat Genet 1:189–200
Falls HF (1951) Sex-linked ocular albinism displaying typical fundus changes in female heterozygote. Amer J Ophthal 34/5 pt. II:41–50
Fitzpatrick TB and Quevedo WC Jr (1972) Albinism, Chapter 14 in: The Metabolic Basis of Inherited Disease, eds: JB Stanbury, JB Wijngaarden and DS Frederickson, 3rd ed New York, McGraw-Hffl pp 326–336
Forsius H and Eriksson AW (1964) Ein neues Augensyndrom mit X-chromosomalen Transmission. Eine Sippe mit Fundus albinismus, Foveahypoplasie, Nystagmus, Myopie, Astigmatismus und Dyschromatopsie, Klin Mbl Augenheilk 144:447–457
King RA and Witkop CJ Jr (1976) Hairbulb tyrosinase activity in oculocutaneous albinism. Nature 263:69–71
King RA and Witkop CJ (1977) Detection of heterozygotes for tyrosinase-negative oculocutaneous albinism by hairbulb tyrosinase assay. Amer J Hum Genet 29:164–169
Nance WE, Witkop CJ and Rawls RF (1971) Genetic and biochemical evidence for two forms of oculocutaneous albinism in man. Birth Defects, Orig Art Ser 7/3:125–128
Nettleship E (1909) On some hereditary disease of the eye. Trans Ophthal Soc UK 29:59
O'Donnell FR Jr, King RA, Green WR and Witkop CJ (1978) Autosomal recessively inherited ocular albinism, a new form of ocular albinism affecting females as severely as males. Arch Ophthal 96:1621–1625
Witkop CJ, Nance WE, Rawls RF and White JG (1970) Autosomal recessive oculocutaneous albinism in man: Evidence for genetic heterogeneity. Amer J Hum Genet 22:55–74
Witkop CJ, White JG, Nance WE, Jackson CE and Desnick S (1971) Classification of albinism in man. Birth Defects, Orig Art Ser 7/8:13–25
Witkop CJ, Quevedo WC and Fitzpatrick TB (1978) Albinism. Chapter 14 in: The Metabolic Basis of Inherited Disease, eds: JB Stanbury, JB Wijngaarden and DS Fredericksson, 4th ed New York, McGraw-Hill, pp 283–316
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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