Article
A clinical and electrophysiological case study of a child with a novel frame shift mutation in the CACNA1F and missense variation of RIMS1 genes.
Documenta ophthalmologica. Advances in ophthalmology - 1 Oct 2022
Weston P, Taranath D, Liebelt J, Smith N
Abstract excerpt
PURPOSE: The purpose of this paper is to present a case study illustrating the importance of electrophysiological investigation in the diagnosis and serial monitoring of isolated congenital nystagmus. RESULTS: Serial electophysiological monitoring was undertaken in the male proband over a 9-year period commencing with initial assessment at 12 weeks of age: Skin electroretinograms (sERGs) were initially absent but...
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