Aside from NSLFP and pectus excavatum, our study did not identify a distinct phenotype compared to ‘classic’ NF1, aligning with a previous detailed series of 22 NF-NS patients [16] and contrasting with other studies focusing on specific NF1 patients with NF1 PVs [22–24, 31, 38, 45] or associated CHM [32]. The gene discussed is NF1; the disease is choroideremia.