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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)
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).
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.
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.
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.
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