Disinhibition of intrinsic photosensitive retinal ganglion cells in patients with X-linked congenital stationary night blindness

• Published in: Graefe's archive for clinical and experimental ophthalmology Vol. 257; no. 6; pp. 1207 - 1215
• Main Authors: Schatz, Andreas, Kelbsch, Carina, Zeitz, Christina, Kohl, Susanne, Zrenner, Eberhart, Gekeler, Florian, Wilhelm, Helmut, Wilhelm, Barbara, Willmann, Gabriel
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.06.2019; Springer Nature B.V
• Subjects: Bipolar cells; Blindness; Medicine; Medicine & Public Health; Nyctalopia; Ophthalmology; Retina; Retinal Disorders; Retinal ganglion cells; Stationary night blindness; Retinal degeneration; Night blindness; CSNB; Pupillography; CACNA1F; NYX

Purpose To assess the pupil light response (PLR) to chromatic stimulation in patients with different types of X-linked congenital stationary night blindness (CSNB). Methods Eight patients with CSNB due to CACNA1F and NYX mutations were exposed to blue and red light stimuli, and PLR was evaluated usi...