May 2007
Volume 48, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2007
Retinal Dysfunction in Carriers of Bardet-Biedl Syndrome
Author Affiliations & Notes
  • L. S. Kim
    Department of Ophthalmology & Visual Sciences, University of Illinois at Chicago, Chicago, Illinois
  • G. A. Fishman
    Department of Ophthalmology & Visual Sciences, University of Illinois at Chicago, Chicago, Illinois
  • W. Seiple
    Department of Ophthalmology & Visual Sciences, New York University School of Medicine, New York, New York
    Research and Development Service, Jesse Brown Veterans Administration Medical Center, Chicago, Illinois
  • J. P. Szlyk
    Department of Ophthalmology & Visual Sciences, University of Illinois at Chicago, Chicago, Illinois
    Research and Development Service, Jesse Brown Veterans Administration Medical Center, Chicago, Illinois
  • Footnotes
    Commercial Relationships L.S. Kim, None; G.A. Fishman, None; W. Seiple, None; J.P. Szlyk, None.
  • Footnotes
    Support Foundation Fighting Blindness; Grant Healthcare Foundation; NIH core grant EY01792; Rehabilitation Research and Development Service
Investigative Ophthalmology & Visual Science May 2007, Vol.48, 2891. doi:
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    • Get Citation

      L. S. Kim, G. A. Fishman, W. Seiple, J. P. Szlyk; Retinal Dysfunction in Carriers of Bardet-Biedl Syndrome. Invest. Ophthalmol. Vis. Sci. 2007;48(13):2891.

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

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Abstract

Purpose:: To determine whether local retinal dysfunction in obligate carriers of the Bardet-Biedl syndrome (BBS) could be observed in electroretinographic responses obtained with the multifocal electroretinogram (mfERG).

Methods:: Six obligate carriers of the BBS (mean age 49 years, range 35-59 years) were examined for the study. Examination of each carrier included an ocular examination and mfERG testing. For the mfERG, we used a 103-scaled hexagonal stimulus array that subtended a retinal area of approximately 40° in diameter. The amplitudes and implicit times in each hexagonal location were compared with corresponding values determined for a group of 34 normally-sighted, age-similar control subjects.

Results:: Mapping of 103 mfERG response amplitudes and implicit times showed local regions of reduced amplitudes and delayed implicit times in three of the six carriers. One carrier showed a granular-appearing pigment mottling in the midperipheral retina, most evident inferiorly.

Conclusions:: The mfERG demonstrated areas of retinal dysfunction in three of six BBS carriers. When present, retinal dysfunction was evident in the presence of a normal-appearing fundus. Multifocal ERG testing can be useful for identifying some carriers of the BBS.

Keywords: electroretinography: clinical • retinal degenerations: hereditary 
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