Figure 6.

(P6) A case of dual diagnosis identified by targeted next-generation sequencing (A) Spectralis optical coherence tomography showed mild temporal retinal dragging with shallow fovea pit. (B) Hand-held electroretinogram showed severely attenuated light-adapted 3.0 response and reduced double peak in light-adapted 30 Hz flicker response (red arrow), which was consistent with incomplete congenital stationary night blindness. Targeted next-generation sequencing showed the hemizygous c.1910+1G>A canonical splice site variant in CACNA1F gene and c.3833G>A:p.(Trp1278*) nonsense variant in LRP5 gene. Dual diagnosis of familial exudative vitreoretinopathy and incomplete congenital stationary night blindness was made in this patient, and regular monitoring of bone densitometry was recommended.