All but 3 eyes of 2 molecularly confirmed patients showed the above-mentioned pathognomonic electroretinography features, in accordance with previous reports demonstrating that only patients found to harbor mutations in NR2E3 have pathognomonic electroretinography responses when compared with patients with retinal dystrophies unrelated to NR2E3. 5Thus, in our cohort, the presence of clinical features consistent with ESCS alongside typical electroretinography responses was deemed diagnostic for ESCS, regardless of molecular confirmation. Here, NR2E3 is linked to inherited retinal dystrophy.