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Purpose <p>Neurofibromatosis type 1 (NF1) is a genetic disorder with recognized ocular involvement, primarily optic pathway gliomas (OPGs). However, retinal structural changes in NF1 patients without gliomas remain poorly defined. This study aimed to evaluate optical coherence tomography (OCT) findings in glioma-free NF1 patients.</p> Methods <p>A systematic search of PubMed, Embase, Scopus, and Web of Science through January 2025 identified studies comparing OCT parameters in NF1 patients without OPGs versus healthy controls.</p> Results <p>A total of eight studies comprising 129 patients with NF1 and 243 healthy controls were included in the analysis. Among pediatric participants, no significant differences were detected in peripapillary retinal nerve fiber layer (pRNFL) thickness, ganglion cell–inner plexiform layer (GC-IPL) thickness, or macular volume. In contrast, adult NF1 patients exhibited a significant reduction in GC-IPL (<i>p</i> &lt; 0.001) and outer nuclear layer (ONL) thickness (<i>p</i> = 0.03), whereas macular RNFL thickness remained comparable to healthy controls.</p> Conclusion <p>Retinal structure appears preserved in pediatric NF1 patients without gliomas. However, significant thinning of inner and outer retinal layers in adults suggests progressive, glioma-independent retinal neurodegeneration. OCT may serve as a valuable tool for detecting subclinical changes in adult NF1 patients.</p>

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Retinal changes in neurofibromatosis type 1 patients without optic pathway glioma: A systematic review and meta-analysis of optical coherence tomography findings

  • 期刊论文

  • 发表日期：

    2026年4月29日

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  • Makan Ziafati,
  • Costanza Barresi,
  • Chiara Giuffrè

摘要

Purpose

Neurofibromatosis type 1 (NF1) is a genetic disorder with recognized ocular involvement, primarily optic pathway gliomas (OPGs). However, retinal structural changes in NF1 patients without gliomas remain poorly defined. This study aimed to evaluate optical coherence tomography (OCT) findings in glioma-free NF1 patients.

Methods

A systematic search of PubMed, Embase, Scopus, and Web of Science through January 2025 identified studies comparing OCT parameters in NF1 patients without OPGs versus healthy controls.

Results

A total of eight studies comprising 129 patients with NF1 and 243 healthy controls were included in the analysis. Among pediatric participants, no significant differences were detected in peripapillary retinal nerve fiber layer (pRNFL) thickness, ganglion cell–inner plexiform layer (GC-IPL) thickness, or macular volume. In contrast, adult NF1 patients exhibited a significant reduction in GC-IPL (p < 0.001) and outer nuclear layer (ONL) thickness (p = 0.03), whereas macular RNFL thickness remained comparable to healthy controls.

Conclusion

Retinal structure appears preserved in pediatric NF1 patients without gliomas. However, significant thinning of inner and outer retinal layers in adults suggests progressive, glioma-independent retinal neurodegeneration. OCT may serve as a valuable tool for detecting subclinical changes in adult NF1 patients.