May 2006
Volume 47, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2006
The Optic Disc in Myocilin Glaucoma
Author Affiliations & Notes
  • A.W. Hewitt
    Department of Ophthalmology, Flinders University, Adelaide, Australia
    Clinical Genetics Unit, Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia
  • S.L. Bennett
    Glaucoma Research Unit, Royal Vicotrian Eye and Ear Hospital, Melbourne, Australia
  • J.L. Poulsen
    Clinical Genetics Unit, Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia
  • J.H. Fingert
    Department of Ophthalmology and Visual Sciences., University of Iowa Hospitals and Clinics, Iowa City, IA
  • P.M. McCartney
    Department of Ophthalmology, University of Tasmania, Royal Hobart Hospital, Hobart, Australia
  • E.M. Stone
    Department of Ophthalmology and Visual Sciences., University of Iowa Hospitals and Clinics, Iowa City, IA
  • J.E. Craig
    Department of Ophthalmology, Flinders University, Adelaide, Australia
  • D.A. Mackey
    Clinical Genetics Unit, Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia
    Department of Ophthalmology, University of Tasmania, Royal Hobart Hospital, Hobart, Australia
  • Footnotes
    Commercial Relationships  A.W. Hewitt, None; S.L. Bennett, None; J.L. Poulsen, None; J.H. Fingert, None; P.M. McCartney, None; E.M. Stone, None; J.E. Craig, None; D.A. Mackey, Pfizer Research Grant, F.
  • Footnotes
    Support  NHMRC #229960; ORIA; Clifford Craig Medical Research Trust
Investigative Ophthalmology & Visual Science May 2006, Vol.47, 5445. doi:
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      A.W. Hewitt, S.L. Bennett, J.L. Poulsen, J.H. Fingert, P.M. McCartney, E.M. Stone, J.E. Craig, D.A. Mackey; The Optic Disc in Myocilin Glaucoma . Invest. Ophthalmol. Vis. Sci. 2006;47(13):5445.

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

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Abstract

Purpose: : Approximately 1 in 30 unselected patients with primary open–angle glaucoma have a mutation in their myocilin gene. The aim of this study was to describe the morphological features of the optic nerve head in myocilin glaucoma.

Methods: : Subjects were recruited through the Glaucoma Inheritance Study in Tasmania. 62 patients with a myocilin mutation (either: Gln368Stop; Pro370Leu; Thr377Met; Ile379Thr; Asp380Gly; or Asn420Tyr) were matched by visual field severity to 115 patients known not to have a myocilin mutation. Simultaneous stereoscopic disc photographs were taken using a Nidek fundus camera 3–Dx/F (Nidek, Gamagori, Japan). Quantifiable analysis of optic disc area, optic cup area, neuroretinal rim area and parapapillary atrophy (PPA) was performed stereoscopically using the StereoDx software with a Z–screen. Subjective grading of the cup depth, lamina cribrosa pore shape and orientation, as well as slope of the neuroretinal rim was performed by an examiner masked to each subject’s mutation status. Mutation screening was conducted either using either direct sequencing or SSCP. A case–control design was adopted.

Results: : Patients with a myocilin mutation were diagnosed earlier (p<0.0001), and had higher maximum recorded intraocular pressures (p<0.0001) than control subjects. There was no significant difference in global disc area (p=0.99), global neuroretinal rim area (p=0.06), alpha–PPA (p=0.06), beta–PPA (p=0.49) or slope of neuroretinal rim (p=0.70). Additionally there was no significant difference in visible lamina cribrosa morphology between mutation carriers and non–mutation carriers. Although disc haemorrhages were found more frequency in non–mutation carriers, this was not significant after correction for multiple testing.

Conclusions: : No structural or morphological difference of the optic nerve head could be delineated in pooled subjects who had a myocilin mutation, when compared to non–myocilin glaucoma.

Keywords: genetics • clinical (human) or epidemiologic studies: natural history • clinical laboratory testing 
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