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Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome
Author(s) -
Thompson Dorothy A.,
Feather Sally,
Stanescu Horia C.,
Freudenthal Bernard,
Zdebik Anselm A.,
Warth Richard,
Ognjanovic Milos,
Hulton Sally A.,
Wassmer Evangeline,
van't Hoff William,
RussellEggitt Isabelle,
Dobbie Angus,
Sheridan Eamonn,
Kleta Robert,
Bockenhauer Detlef
Publication year - 2011
Publication title -
the journal of physiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.802
H-Index - 240
eISSN - 1469-7793
pISSN - 0022-3751
DOI - 10.1113/jphysiol.2010.198531
Subject(s) - photopic vision , scotopic vision , erg , electroretinography , retinal , stimulus (psychology) , retina , ophthalmology , biology , audiology , medicine , endocrinology , neuroscience , psychology , psychotherapist
Non‐technical summary Light stimulates ion flow through the retina. This generates a potential change at the cornea which is recorded as an electroretinogram (ERG). Our understanding of the role of potassium ions in generating the ERG is based on animal models. The KCJN10 gene constitutes Kir4.1, the principle potassium channel expressed on the retinal Muller cell. We have been able to study the impact of this potassium channel on the human retina for the first time by recording the ERGs of patients with EAST syndrome who have known mutations of KCJN10. Our data show a reduction in the amplitude of the photopic negative response of the light‐adapted ERG and a decrease in the sensitivity of the dark‐adapted ERG. These data increase our understanding of how the ERG is generated and why these ERG parameters may be affected in disease.