Prenatal diagnosis in albinism.
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Biomedical subjects
Publications and source records attributed to W O Taylor.
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5-S-cysteinyldopa concentrations were determined by high-pressure liquid chromatography and electrochemical detection in plasma from normally pigmented patients and patients with oculocutaneous albinism, both tyrosinase-positive and tyrosinase-negative. The plasma 5-S-cysteinyldopa concentrations were similar in all three groups, suggesting that 5-S-cysteinyldopa can be produced by mechanisms which do not involve tyrosinase.
Not 'Low Vision Aids' alone, but the full range of methods of helping sight in these visually handicapped persons--a much wider range than is generally realised--and which includes many non-optical manoeuvres and various 'gadgets' available to all forms of defective vision, as well as the newer electronic aids is described. The difficulty for the ophthalmologist in knowing how best to help patients with albinism should be resolved by 'customer research'; this paper attempts to do so by analysis of a questionnaire to members of the Albino Fellowship.
The visual disabilities of oculocutaneous albinism are discussed in the light of a series of 32 such patients seen in South-west Scotland between 1962 and 1978. Possible explanations for these defects are considered, with reference to an original series of light and electron microscopic sections from early embryos by Dr John Shaw-Dunn of the Department of Anatomy of Glasgow University which may afford clues to the relationship between the pigmentary and neurological aspects of the condition. Various forms of treatment which have been suggested are debated, and the author's own approach is described. Emphasis is laid on the social needs of the albino, and ways of meeting these are put forward.
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I shall discuss the nature of the sensation of colour and the reason for our colour vision, leading on to the existence of defects in that sense. I will consider the different kinds of such defects and the arguments for the use of particular tests in varying circumstances. I report the result of a recent survey of the value of a careers advisory service for "colour blind" school children seen between 1965 and 1977 (primarily red-green blind). This leads to examples of the value of these tests in genetics, and in the early diagnosis of disease or toxicity. I shall also describe the various modifications I have made to the 100-hue test, with its eventual automation both for computation and recording. Finally, the recommendations I make for future progress cover routine examination, both on starting primary education and on entering secondary education, analysis of the colour task at work, and the adoption of an enlightened system of colour coding.
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