Studies Toward a Genetic Understanding of Glaucoma

Principal Investigator

Project Summary

Differing environmental factors combined with the many genetic variations between those who have glaucoma and those who do not make it difficult to identify the specific genes responsible for glaucoma in humans. Many of the difficulties of studying glaucoma in humans can be alleviated by using mice because the two species share many crucial genes. Dr. John has been developing a mouse model to help scientists determine the genetics of glaucoma. One aim of the current study is to identify genes that contribute to the malformation of the iris and ocular drainage structures in NM1839 mice, because the eyes of these mice are malformed in a similar fashion to some human eyes that develop glaucoma. The other goal is to extend the results of a previous project, and this will involve an analysis of genetic factors that modify the severity of glaucomatous damage associated with high IOP. Dr. John has previously shown that the introduction of some genes from a non-glaucomatous mouse strain (B6) alleviates the glaucoma phenotype in a glaucomatous mouse strain (D2). He is now extending his initial studies to definitively characterize the glaucoma susceptibilities of D2 and B6 mice. It is hoped that the completion of this aim will provide important information to help identify genes that alter glaucoma susceptibility in humans. This study is a continuation of a former BrightFocus-funded study of the same name, commenced in 1997.


Anderson, M.G., Smith, R.S., Savinova, O.V., Hawes, N.L., Chang, B., Zabaleta, A., Wilpan, R., Heckenlively, J.R., Davisson, M., John, S.W. (2001) Genetic modification of glaucoma associated phenotypes between AKXD-28/Ty and DBA/2J mice. BMC Genetics. 2:1  

Savinova, O.V., Sugiyama, F., Martin, J.E., Tomarev, S.I., Paigen, B.J., Smith, R.S., John, S.W. (2001) Intraocular pressure in genetically distinct mice: an update and strain survey. BMC Genetics. 2:12.  

John, S.W. and Savinova, O.V. (2001) Intraocular pressure measurement in mice: Technical aspects. In: Systematic Evaluation of the Mouse Eye: Anatomy, Pathology and Biomethods. Smith RS, John SWM, Nishina PM, Sundberg JP, (Eds.) CRC Press, Boca Raton, Florida, pp. 313-319. [Book Chapter]

First published on: June 11, 2008

Last modified on: September 28, 2023