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Genetic Consultations in Neuroophthalmology

Published online by Cambridge University Press:  01 August 2014

D. Klein
D. Klein*
Affiliation:
Institute of Medical Genetics, University of Geneva, Switzerland
*
Institut de Génétique Médicale, 8 chemin Thury, 1206 Genève, Switzerland

Abstract

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The geneticist faced with severe neuroophthalmological conditions should not only establish the prognosis on the basis of probability laws, but also take into consideration the prevailing affective and social situation of these patients and their families.

Huntington's chorea, e.g., manifests itself between 30 and 40 years of age, that is to say, when the patients often have already one or more children, who shall be exposed to the threat of becoming affected until rather an advanced age.

Among other dominant affections, myotonic dystrophy (Steinert) is discussed, which can nowadays be diagnosed in about 1/3 of cases before the first clinical manifestations, owing to slit-lamp examination and electromyography. Contrary to Huntington's disease, the affection can be detected at an early stage of life, so that the patients may still be dissuaded from having children.

In the field of ophthalmological conditions, the genetics of uni- and bilateral retinoblastoma, the three types of retinitis pigmentosa (recessive, dominant, sex-linked), the Lowe's and Waardenburg-Klein syndromes, as well as Tay-Sachs disease, are reviewed. As regards the latter condition, the importance of the discovery of a deficiency of hexosaminidase A is pointed out, since the detection of heterozygous carriers, and even prenatal diagnosis, have now become possible for this disease.

Type
2. Genetic Counseling and the Detection of Carriers in Neurology
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 23 , supplement S1 , January 1974 , pp. 115 - 119
Copyright
Copyright © The International Society for Twin Studies 1974

References

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