May 2003
Volume 44, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2003
Defining the Role of Mutations in Optineurin in Early Onset Open Angle Glaucoma
Author Affiliations & Notes
  • C.E. Willoughby
    Ophthalmology, The Hospital for Sick Children, Toronto, Toronto, ON, Canada
  • L. Chan
    Ophthalmology, Vision Science Research Program, Toronto Western Hospital, Toronto, ON, Canada
  • S. Herd
    Ophthalmology, Vision Science Research Program, Toronto Western Hospital, Toronto, ON, Canada
  • Y. Buys
    Ophthalmology, Toronto Western Hospital, Toronto, ON, Canada
  • G. Trope
    Ophthalmology, Toronto Western Hospital, Toronto, ON, Canada
  • A. Levin
    Ophthalmology, Toronto Western Hospital, Toronto, ON, Canada
  • N. Noordeh
    Ophthalmology, Toronto Western Hospital, Toronto, ON, Canada
  • P. Jani
    Ophthalmology, Toronto Western Hospital, Toronto, ON, Canada
  • M. Sarfarazi
    Molecular Ophthalmic Genetics Laboratory, University of Connecticut Health Center, Farmington, CT, United States
  • E. Heon
    Molecular Ophthalmic Genetics Laboratory, University of Connecticut Health Center, Farmington, CT, United States
  • Footnotes
    Commercial Relationships  C.E. Willoughby, None; L. Chan, None; S. Herd, None; Y. Buys, None; G. Trope, None; A. Levin, None; N. Noordeh, None; P. Jani, None; M. Sarfarazi, None; E. Heon, None.
  • Footnotes
    Support  BUPA Foundation, Royal College of Ophthalmologists, UK.
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 1127. doi:
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      C.E. Willoughby, L. Chan, S. Herd, Y. Buys, G. Trope, A. Levin, N. Noordeh, P. Jani, M. Sarfarazi, E. Heon; Defining the Role of Mutations in Optineurin in Early Onset Open Angle Glaucoma . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1127.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Abstract: : Purpose: Sequence changes in optineurin (OPTN) have recently been reported to cause or increase susceptibility to primary open angle glaucoma (POAG) and normal tension glaucoma (NTG). The aim of this study was to define the role of OPTN in patients with early onset open angle glaucoma/juvenile open angle glaucoma (JOAG). Methods: Mutational analysis of OPTN used a combination of single strand conformation polymorphism (SSCP) and direct cycle sequencing. The patient population included 89 unrelated cases affected with JOAG. Criteria for inclusion included: age of onset 22mmHg in both eyes, optic nerve damage and corresponding visual field loss. Individuals with secondary glaucomas were excluded. Results: A R545Q sequence change in exon 16 of OPTN was detected in one Chinese individual with familial JOAG. By SSCP analysis the mutation segregated with the disease within the family. The mutation was not detected in 170 ethnically mixed control individuals but was present in 3/16 Chinese controls. The mutations E50K and c.691_692insAG (numbered as GenBank: AF420371) previously reported in POAG/NTG were not detected in our JOAG population. The M98K polymorphism has been reported as a risk-associated polymorphism in the POAG/NTG population. M98K was seen in 4/178 (2.2%) chromosomes of individuals with JOAG, in 9/106 (8.5%) chromosomes of patients with POAG and in 5/200 (2.5%) control chromosomes. Conclusions: R545Q has previously been reported as a disease causing mutation in POAG/NTG and was detected in one family with JOAG in our study population. The prevalence of the M98K polymorphism differed between our JOAG and POAG populations. The M98K polymorphism may confer a susceptibility risk to POAG but does not appear to predispose to JOAG.

Keywords: genetics • mutations • proteins encoded by disease genes 
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