Fig. 2

Ocular clinical manifestations caused by NF1 gene mutation. (A) The characteristic clinical manifestations of NF1 include Lisch nodules, appearing as protrusions on the iris surface with a scattered distribution (black arrows). (B) Patchy pigmentation abnormalities in the lower iris represent another iris-related feature associated with NF1. (C) OCT imaging demonstrates hyperreflective dots in the choroid (yellow arrow). (D) Orbital MRI in the T2 phase shows different degrees of abnormal thickening of the bilateral optic nerves and optic chiasma, with the right side heavier than the left side (red arrow) and abnormal signals near the brainstem (white arrow). (E) Fundus examination in this child with NF1 reveals a blurred optic disc. (F, G) Ocular B-scan ultrasonography identifies vitreous opacities, band-like echoes in the vitreous cavity, and optic nerve thickening (white circle)