L- and M-cone-driven electroretinograms in stargardt's macular dystrophy-fundus flavimaculatus

H. P.N. Scholl, J. Kremers, R. Vonthein, K. White, B. H.F. Weber

Research output: Contribution to journalArticle

Abstract

Purpose. To study the dynamics of the long (L)- and middle (M)-wavelength - sensitive cone-driven pathways and their interactions in patients with Stargardt's macular dystrophy-fundus flavimaculatus (SMD-FF) and to correlate them with other clinical parameters and individual genotypes. Methods. Forty-seven patients with SMD-FF participated in the study. In addition to standard 30-Hz flicker electroretinograms (30-Hz fERG), ERG responses were measured to stimuli that modulated exclusively the L or the M cones (L/M cones) or the two simultaneously. Blood samples were screened for mutations in the 50 exons of the ABCA4 gene. Results. Patients with SMD-FF did not show a decrease in the mean L/M-cone-driven ERG sensitivity, but there was a significant increase in the interindividual variability. The mean L-/M-cone weighting ratio was normal. However, the L-cone-driven ERG was significantly phase delayed, whereas the M-cone-driven ERG was significantly phase advanced. These phase changes were significantly correlated with disease duration. The amplitude and implicit time of the standard 30-Hz fERG both correlated significantly with the L/M-cone-driven ERG sensitivity and with the phase difference between the L/M-cone-driven ERGs, indicating the complex origin of the standard 30-Hz fERG. Probable disease-associated mutations in the ABCA4 gene were found in 40 of 45 patients, suggesting that they form a genetically fairly uniform SMD-FF study group. There was no correlation between the genotype and the L/M-cone- driven ERGs. Conclusions. The changes in L/M-cone-driven ERG sensitivity and phase possibly represent two independent disease processes. The phase changes are similar to those found in patients with retinitis pigmentosa and possibly are a general feature of retinal dystrophies.

Original languageEnglish (US)
Pages (from-to)1380-1389
Number of pages10
JournalInvestigative Ophthalmology and Visual Science
Volume42
Issue number6
StatePublished - May 9 2001

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

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    Scholl, H. P. N., Kremers, J., Vonthein, R., White, K., & Weber, B. H. F. (2001). L- and M-cone-driven electroretinograms in stargardt's macular dystrophy-fundus flavimaculatus. Investigative Ophthalmology and Visual Science, 42(6), 1380-1389.