Outer retinal structural anomaly due to frameshift mutation in CACNA1F gene

X-linked congenital stationary night blindness (CSNB) is associated with mutations in nyctalopin1 (NYX;CSNB1A) or in the α1 subunit of L-type voltage-gated Ca2+ channel2 (CACNA1F;CSNB2A). We report for the first time, optical coherence tomography (OCT) features consistent with abnormal synapses in the outer nuclear layer (ONL) in a molecularly confirmed case of CSNB2A.