Retinal peripapillary nerve fiber and retinal ganglion cell layer thickening preceed atrophy in children and teenagers with optic disc drusen

TL;DR

This study finds that in children and teenagers with optic disc drusen, retinal layers initially thicken before thinning, suggesting a progression from swelling to atrophy.

Contribution

The study identifies stage-specific pediatric changes in retinal layers associated with optic disc drusen, revealing a thickening phase preceding atrophy.

Findings

Retinal ganglion cell layer thickening precedes peripapillary nerve fiber layer thinning in optic disc drusen stages.

Stage C optic disc drusen show significant peripapillary nerve fiber layer thickening in multiple sectors.

Stage D optic disc drusen exhibit global thinning of retinal layers, most pronounced in temporal sectors.

Abstract

In adults, optic disc drusen (ODD) are linked to thinning of the retinal ganglion cell layer (rGCL) and peripapillary retinal nerve fibre layer (pRNFL), but stage-specific pediatric changes remain unclear. This prospective cross-sectional study included 31 patients (61 eyes) with ODD and 21 age-matched controls (42 eyes), aged 6–18 years. pRNFL thickness was measured with Spectralis SD-OCT at 3.5 mm and 4.7 mm peripapillary rings; rGCL was assessed at the posterior pole. ODD were graded by OCT and ultrasound criteria as follows: A; deep ODD detectable by ultrasound, exclusively. B; deep ODD detectable by OCT and located below Bruch´s membrane (BM), C; superficial ≤ 5, and D; superficial > 5 ODD above BM, respectively. At 3.5 mm, stage D ODD showed significant pRNFL thinning in the temporal superior (TS), nasal superior (NS) and nasal (N) sector, while stage C showed significant thickening TS, NS, temporal inferior (TI), and globally. At 4.7 mm, stage D ODD showed thinning in all sectors, most pronounced TS, NS and TI; the temporal sector was most preserved. Stage C did not differ from controls here. rGCL was thickened in stage B superior (S), NS, nasal inferior (NS) and globally, and in stage C in all sectors but TI. Stage D showed significant global thinning in all sectors, most temporal, least nasal. Thus, rGCL thickening preceded pRNFL changes; 3.5 mm detected early congestion, 4.7 mm revealed atrophy; the papillomacular bundle was relatively preserved. In pediatric patients deep drusen and those advancing toward the optic nerve head surface first cause sector-specific swelling of both pRNFL and rGCL followed by atrophy in the very same sectors. Larger patient cohorts and prospective longitudinal studies are needed to define whether these findings occur in a chronological order. If so, such data may become of prognostic value for visual functions in ODD patients.

The online version contains supplementary material available at 10.1038/s41598-025-25161-7.

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