Hostname: page-component-cd9895bd7-dk4vv Total loading time: 0 Render date: 2024-12-26T11:49:16.084Z Has data issue: false hasContentIssue false
  • English
  • Français

Heritability Study on Size of the Physiologic Cup of the Optic Nerve Head - A Summary Report

Published online by Cambridge University Press:  01 August 2014

J. T. Schwartz ,
F. H. Reuling  and
M. Feinleib
J. T. Schwartz*
Affiliation:
National Eye Institute, National Institutes of Health, Department of Health, Education and Welfare, Bethesda, Maryland, USA
F. H. Reuling
Affiliation:
National Eye Institute, National Institutes of Health, Department of Health, Education and Welfare, Bethesda, Maryland, USA
M. Feinleib
Affiliation:
National Heart and Lung Institute, National Institutes of Health, Department of Health, Education and Welfare, Bethesda, Maryland, USA
*
18000 Marden Lane, Sandy Springs, Maryland 20860, USA

Abstract

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

Cupping of the optic nerve head is regarded as one of a triad of diagnostic signs associated with glaucoma. This study was undertaken to assess the role of genetic factors in determining size of the physiologic cup of the normal optic nerve head, as measured by a horizontal cup/disc ratio. This is important to our ultimate understanding of the determinants of pathologic change. Horizontal cup/disc ratio was estimated in a sample of 37 MZ and 26 like-sex DZ twin pairs aged 15 years and older. Differences between MZ and DZ samples with respect to intrapair variance and intraclass correlation coefficient were highly significant. This finding of high heritability for measurements of cup diameter is in contrast to low heritability estimates found in a companion investigation on heritability of the effect of corticosteroids on intraocular pressure.

Type
5. Twin Studies in Human Genetics
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 25 , Issue 1 , January 1976 , pp. 181 - 186
Copyright
Copyright © The International Society for Twin Studies 1976

References

REFERENCES

Armaly, M.F. 1967. Genetic determination of cup/disc ratio of the optic nerve. AMA Arch. Ophthalmol., 78: 35.Google Scholar
Jablon, S., Jablon, S., Neel, J.V., Gerskowitz, H., Atkinson, G. 1967. The NAS-NRC twin panel: methods of construction of the panel, zygosity diagnosis and proposed use. Am. J. Hum. Genet., 19: 131–161.Google Scholar
Jancke, G. 1940. Die Augenmerkmale bei Zwillingen und ihre Bedeutung für die Diagnose der Ein- oder Zweieiigkeit. Graefe's Arch. Ophthalmol., 142: 113–155.Google Scholar
Nakajima, A. 1961. The heritability estimates of the optical components of the eye and their mutual relationships by a new method of measurements on twins. Proc. 2nd Int. Congr. Human Genetics, Rome 1963: Istituto G. Mendel Publ. Google Scholar
Nakajima, A., Kimura, T., Kitamura, K., Uesugi, Handa Y. 1966. Heritability study on metric traits of the eye and the body by family and twin study. 3rd Int. Congr. Human Genetics, Chicago.Google Scholar
Rötth, A. 1937. Ueber Augenbefund von Zwilligen. Klin. Monatsbl. Augenheilkd., 98: 636–652.Google Scholar
Schwartz, J.T. 1970. A twin register for eye studies and need for collaboration. Proc. 1st Int. Symp. Twin Studies, Rome. 1969. Acta Genet. Med. Gemellol. (Roma), 19: 344–348.CrossRefGoogle Scholar
Schwartz, J.T. 1976. Methodologic differences arid measurement of cup/disc ratio. An epidemiologic assessment. AMA Arch. Ophthalmol., 94: 1101–1105.CrossRefGoogle Scholar
Schwartz, J.T., Feinleib, M. 1974. Twin heritability study. In Goldberg, M.F.: Genetic and Metabolic Eye Disease. Boston: Little, Brown and Co. Google Scholar
Schwartz, J.T., Reuling, F.H., Feinleib, M., Garrison, R.J., Collie, D.J. 1972. Twin heritability study of the effect of corticosteroids on intraocular pressure. J. Med. Genet., 9: 137–143.Google Scholar
Schwartz, J.T., Reuling, F.H., Feinleib, M., Garrison, R.J., Collie, D.J. 1973a. Twin study on ocular pressure following topical dexamethasone. I. Frequency distribution of pressure response. Am. J. Ophthalmol., 76: 126–136.Google Scholar
Schwartz, J.T., Reuling, F.H., Feinleib, M., Garrison, R.J., Collie, D.J. 1973b. Twin study on ocular pressure following topically applied dexamethasone. II. Inheritance of variation in pressure response. AMA Arch. Ophthalmol., 90: 281–286.Google Scholar
Schwartz, J.T., Reuling, F.H., Garrison, R.J. 1975. Acquired cupping of the optic nerve head in normotensive eyes. Br. J. Ophthalmol., 59: 216–222.Google Scholar
Snydacker, D. 1964. The normal optic disc. Ophthalmoscopic and photographic studies. Am. J. Ophthalmol., 58: 958.Google Scholar