Longitudinal findings in children with neurofibromatosis type 1
Reviewed by Claire Howard

This retrospective chart review evaluates the ophthalmologic findings of children with neurofibromatosis type 1 (NF1). Optic pathway gliomas (OPGs) are the most common tumours found in children with NF1. Findings are compared between eyes with and without optic pathway gliomas (OPGs). Data compared included demographic characteristics, clinical manifestations of disease, and ophthalmologic findings including visual acuity, intraocular pressure, cup-to-disc ratio, visual field testing, and optical coherence tomography findings. Ophthalmologic findings were examined for the cohort for initial and final appointments. The study included 119 participants with 238 total eyes. The most common clinical manifestations of NF1 in this cohort were café au lait macules (98%), axillary or inguinal freckling (91%), Lisch nodules (66%), and cutaneous neurofibromas (57%). Thirty-seven participants had imaging that allowed evaluation for choroidal abnormalities, of which 28 (76%) had choroidal lesions. Twenty-seven participants (23%) had OPGs, and 44 eyes were affected. On initial assessment, eyes with OPGs had worse visual acuity. On final examination, eyes with OPGs were more likely to have a worse visual acuity and a thinner generalised retinal nerve fibre layer (RNFL) thickness, inferior RNFL thickness, and temporal RNFL thickness. This study provides longitudinal follow-up of children affected by NF1 with and without OPGs.

Ophthalmologic findings in children with neurofibromatosis type 1.
Zimmerman CM, Singh S, Cardakli N, Kraus C.
NEURO-OPHTHALMOLOGY
2024;48(1):19–26.