Prenatal diagnosis in albinism.

KIE: Albinism, a recessive genetic condition, can be diagnosed by fetoscopy between the 16th and 20th weeks of pregnancy, in time for subsequent abortion. Taylor, president of The Albino Fellowship, considers whether the disabilities of albinism justify abortion of an albino fetus. He discusses the skin and eye problems associated with albinism and how they can be prevented, treated, or compensated for. In temperate climates this can be easily done. In tropical climates, the alleviation of the disabilities of albinism would be unavailable to the poor, as would be prenatal diagnosis. The wealthy who could afford prenatal diagnosis could also cope with the disabilities. The author concludes that, for parents of albino children, many of whom choose not to risk the 25% chance of albinism in future pregnancies, prenatal diagnosis and selective abortion would be a welcome option. However, he urges that adequate counseling be provided before a decision is made.^ieng

Aiding the vision in albinism--optical and non-optical means considered.

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.

Plasma 5-S-cysteinyldopa concentrations in oculocutaneous albinism.

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.

Hereditary puzzles in albinism: heterogeneity or phenotypical variation?

Important new evidence is now available which is making clearer the genetic factors underlying inherited deficiency of pigmentation, both in its oculocutaneous form, and in that (apparently) limited to the eye. Among 32 individuals with oculo-cutaneous albinism, described by the author in 1978, were two families with apparent pheno-typical variation. To explain this, further studies by light- and electron-microscopy are reported here, together with metabolic tests, and the results of tests of the visually evoked cerebral responses. The idea of 'non-complementary allelism' is suggested as a possible explanation. Support for the thesis of genetic heterogeneity is given by the evidence of non-allelic albino-albino marriages, more of which have been reported since Trevor-Roper's classic instance, including another possible example from my previously reported pedigree in 1981.

Albinos who bleed (Hermansky-Pudlak syndrome). The Gypsy's Warning?

Attention is drawn to the uncommon autosomal recessive Hermansky-Pudlak syndrome, because of the very material risk of unexpected death in this triad of albinism, platelet deficiency, and failure of 'ceroid' metabolism, which appears to have been overlooked in ophthalmic literature. A possible Scottish case is described.

Edridge-Green Lecture, 1978. Visual disabilities of oculocutaneous albinism and their alleviation.

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.

The Mackenzie Memorial Lecture, 1977. Of divers colours.

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.