Inheritance of Refractive Errors

Wadih M. Zein and Arlene V. Drack

in Genetic Diseases of the Eye, Second Edition

Second edition

Published on behalf of © Elias I. Traboulsi

Published in print January 2012 | ISBN: 9780195326147
Published online October 2012 | e-ISBN: 9780199975181 | DOI:

Series: Oxford Monographs on Medical Genetics

Inheritance of Refractive Errors

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Identical twin studies showing up to 90% correlation of refraction between monozygotic twins leave little doubt that the principal components of refraction are inherited. Recent molecular genetic and gene-mapping studies have further substantiated the genetic etiology of various forms of refractive errors. The fact that correlation is not 100% between identical twins, and that the correlation weakens with ametropia, particularly high myopia, proves that refraction is not completely genetically programmed, at least not by a single gene. Intrauterine, polygenic, or environmental influences certainly play a role. Refractive errors of all types can be inherited in a simple mendelian fashion in some families. Even in such families, however, the degree of ametropia may vary widely among affected individuals. Clues to underlying pathogenetic mechanisms may come from genetic defects elucidated in disorders that feature refractive errors, such as Stickler syndrome. At present if a high refractive error is present, an associated syndrome should be sought. If the refractive error appears to be isolated, signs of other ocular disorders should be sought. A careful family history may reveal the inheritance pattern of isolated refractive errors for a given family. If none is apparent, patients must be informed that while simple mendelian frequencies cannot be given, cases of X-linked, autosomal recessive and autosomal dominant transmission have been reported for almost every type of refractive error and cannot be ruled out for a single individual. Myopes in particular tend to have myopic children, and hypermetropes, especially those with esophorias, may impart an increased risk of esotropia to their offspring. The relationship between astigmatism and keratoconus is being elucidated. In all eye conditions early recognition and treatment in childhood help make normal vision possible, and early examination may prevent amblyopia in those with a family history of refractive errors.

Chapter.  7944 words.  Illustrated.

Subjects: Clinical Genetics ; Ophthalmology

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