April 2009
Volume 50, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2009
Mutation Profile of CYP1B1 Gene in North Indian Congenital Glaucoma Patients
R. Dada; M. Tanwar; R. Sihota; V. Gupta; T. Dada
Author Affiliations & Notes
  • R. Dada
    Laboratory for molecular Reproduction and Genetics, Department of Anatomy, AIIMS, New Delhi, India
  • M. Tanwar
    Laboratory for molecular Reproduction and Genetics, Department of Anatomy, AIIMS, New Delhi, India
  • R. Sihota
    Dr. R.P.Centre for Ophthalmic Sciences, AIIMS,, New Delhi, India
  • V. Gupta
    Dr. R.P.Centre for Ophthalmic Sciences, AIIMS,, New Delhi, India
  • T. Dada
    Dr. R.P.Centre for Ophthalmic Sciences, AIIMS,, New Delhi, India
  • Footnotes
    Commercial Relationships  R. Dada, None; M. Tanwar, None; R. Sihota, None; V. Gupta, None; T. Dada, None.
  • Footnotes
    Support  None.
Investigative Ophthalmology & Visual Science April 2009, Vol.50, 869. doi:
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      R. Dada, M. Tanwar, R. Sihota, V. Gupta, T. Dada; Mutation Profile of CYP1B1 Gene in North Indian Congenital Glaucoma Patients. Invest. Ophthalmol. Vis. Sci. 2009;50(13):869.

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Abstract

Purpose: : To investigate the predominant mutations in CYP1B1 gene in north-indian PCG patients.

Results: : On PCR-RFLP analysis total 20/50 (40%) showed either of these mutation. Ter@223 was found in 18%, R390C in 16% and R368H in 8% cases. On DNA sequencing R390C mutation was found to be R390H and three novel (L24R, F190L and R390D) mutations were revealed. Total 44% cases had CYP1B1 mutations.

Keywords: genetics • anterior chamber • intraocular pressure 
© 2009, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2025 Association for Research in Vision and Ophthalmology.
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