Macular dystrophy with protan genotype and phenotype studied with cone type specific ERGs

H. P.N. Scholl, J. Kremers, B. Wissinger

Research output: Contribution to journalArticlepeer-review

Abstract

Purpose. To determine the L- and M-cone driven ERG responses in a male patient with macular dystrophy and a protan phenotype. Methods. We measured large field ERG thresholds to stimuli which modulated exclusively the L- or the M-cones or the two in various combinations (both in-phase and in counter-phase). In none of the stimuli, the S-cones were modulated. Additionally, standard and multifocal ERGs were measured. Analysis of the L- and M-cone pigment genes was performed by means of PCR, RFLP analysis and DNA sequencing techniques. Results. Macular dystrophy was revealed by the markedly abnormal multifocal ERGs in presence of near normal standard ERGs. The large field ERG responses were exclusively driven by the M-cones with enlarged thresholds when compared with otherwise normal protanopes. In addition, the M-cone driven ERG response phases were abnormal. Pigment gene analysis confirmed a protan genotype with the presence of a single 5′red/3′green hybrid pigment gene. Conclusions. Our novel stimulus technique allows a reliable analysis of the separate cone pathways even in cases with macular dysfunction. The increased thresholds and the abnormal phase behavior of the M-cone driven ERGs reflect altered mechanisms of the retinal physiology in this patient. The data strongly suggest that the macular dystrophy and the protanopia have independent origins.

Original languageEnglish (US)
Pages (from-to)221-228
Number of pages8
JournalCurrent Eye Research
Volume22
Issue number3
DOIs
StatePublished - Oct 1 2001

Keywords

  • ERG
  • L-cones
  • M-cones
  • Macular dystrophy
  • Protanopia

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

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