May 2003
Volume 44, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2003
Electrophysiology and Ocular Blood Flow in a Family with Dominant Optic Nerve Atrophy and a Mutation in the OPA1 Gene
Author Affiliations & Notes
  • L. Granse
    Dept. of Ophthalmology, University Hospital of Lund, Lund, Sweden
  • I. Bergstrand
    Dept. of Ophthalmology, University Hospital of Malmö, Malmö, Sweden
  • D. Thiselton
    Dept. of Molecular Genetics, Institute of Ophthalmology, University College, London, London, United Kingdom
  • V. Ponjavic
    Dept. of Molecular Genetics, Institute of Ophthalmology, University College, London, London, United Kingdom
  • A. Heijl
    Dept. of Molecular Genetics, Institute of Ophthalmology, University College, London, London, United Kingdom
  • M. Votruba
    Dept. of Molecular Genetics, Institute of Ophthalmology, University College, Dept. of Clinical Ophthalmology, Moorfields Eye Hospital, London, United Kingdom
  • S. Andréasson
    Dept. of Molecular Genetics, Institute of Ophthalmology, University College, Dept. of Clinical Ophthalmology, Moorfields Eye Hospital, London, United Kingdom
  • Footnotes
    Commercial Relationships  L. Granse, None; I. Bergstrand, None; D. Thiselton, None; V. Ponjavic, None; A. Heijl, None; M. Votruba, None; S. Andréasson, None.
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 4122. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      L. Granse, I. Bergstrand, D. Thiselton, V. Ponjavic, A. Heijl, M. Votruba, S. Andréasson; Electrophysiology and Ocular Blood Flow in a Family with Dominant Optic Nerve Atrophy and a Mutation in the OPA1 Gene . Invest. Ophthalmol. Vis. Sci. 2003;44(13):4122.

      Download citation file:


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

      ×
  • Supplements
Abstract

Abstract: : Purpose: To characterize the clinical phenotype, with emphasis on electrophysiology and blood flow measurements, in a family with dominant optic nerve atrophy and an identified mutation in the OPA1 gene. Methods: Seven family members were examined. Ophthalmological evaluation included testing of visual acuity, ophthalmolscopy, kinetic perimetry, color vision testing, full-field electroretinography (ERG), multifocal electroretinography (MERG) and multifocal visual evoked potential (MVEP). Retrobulbar arterial blood flow and retinal capillary perfusion was measured in three patients, using scanning laser Doppler flowmetry (SLDF) and color Doppler imaging technique. PCR-SSCP and DNA sequencing determined the presence of a mutation in exon 18 of the OPA1 gene. Results: The clinical characteristics varied considerably in the family. The ERG and the MERG demonstrated normal retinal function, while the MVEP was abnormal in all examined patients. Retinal and optic nerve head capillary perfusion was significantly decreased in all patients examined with SLDF. Retrobulbar blood flow velocities were significantly decreased in the central retinal and ophthalmic arteries. In all seven examined subjects a micro-deletion (1756-1767del12bp) in the OPA1 gene was identified. Conclusions: Patients with optic nerve atrophy and a mutation in the OPA1 gene have a very variable phenotype. The MVEP and ocular blood flow measurements are two new objective methods that may be of value for detection of this specific genetic optic nerve disease.

Keywords: electrophysiology: clinical • neuro-ophthalmology: optic nerve 
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×