Ophthalmologic Findings in Children with Neurofibromatosis Type 1

Area of Science:

• Ophthalmology
• Genetics
• Pediatrics

Background:

• Neurofibromatosis type 1 (NF1) is a genetic disorder with variable expressivity.
• Ocular manifestations are common in NF1, including optic pathway gliomas (OPGs).

Purpose of the Study:

• To evaluate ophthalmologic findings in children with NF1.
• To compare ocular findings in NF1 patients with and without OPGs.

Main Methods:

• Retrospective chart review of 119 children with NF1.
• Analysis of ophthalmologic findings including visual acuity, intraocular pressure, and optical coherence tomography (OCT).
• Comparison of findings between eyes with and without OPGs.

Main Results:

• Common NF1 manifestations included café au lait macules and Lisch nodules.
• 23% of participants had OPGs, affecting 44 eyes.
• Eyes with OPGs showed worse visual acuity and thinner retinal nerve fiber layers (RNFLs) on final examination.

Conclusions:

• OPGs are associated with poorer visual outcomes in children with NF1.
• Longitudinal follow-up reveals significant RNFL thinning in eyes with OPGs.