Correlation Between Visual Symptoms and Optic Disc Drusen Phenotype in a Cohort of Patients

Optic disc drusen (ODD) is a slowly progressive, neurodegenerative optic neuropathy with incompletely described symptomatology. We aimed to investigate correlations between visual symptoms, optic nerve head anatomy, and visual function in a cohort of patients with ODD. Patients with optical coherence tomography (OCT)-verified ODD enrolled in a prior study (2017–2024) and consenting to recontact were invited to participate. Participants completed a National Eye Institute Visual Function Questionnaire-25 adapted for ODD (VFQ-25+), systematic OCT scan of the macula and optic nerve head, and a 30-degree automated perimetry. We included 118 patients (234 eyes). Comparing patients with bilateral superficial ODD (n = 46) to those with bilateral deep ODD (n = 26), there were no significant differences in symptoms such as transient visual obscurations (73.9% vs. 73.1%, p = .94) or nyctalopia (78.3% vs. 61.5%, p = .13), nor in VFQ-25+ scores (80.7 vs. 85.8, p = .06). Analyzing individual eyes, eyes with superficial ODD (n = 137) showed significantly lower macular ganglion cell layer and inner nuclear layer volumes and peripapillary retinal nerve fiber layer thickness (p R = 0.75, p = 7.4e-26) compared to eyes with deep ODD (n = 97, R = 0.33, p = .0011). Although superficial ODD was associated with more pronounced declines in visual function, symptom reporting was consistent across ODD locations. Similar VFQ-25+ scores among different patient phenotypes suggest perimetric and retinal changes may not be readily perceived by patients.

视盘玻璃膜疣（Optic disc drusen, ODD）是一种进展缓慢的神经退行性视神经病变，其临床症状谱尚未被完全阐明。本研究旨在探讨视盘玻璃膜疣患者队列中，视觉症状、视神经乳头解剖结构与视功能之间的相关性。我们邀请了既往一项2017至2024年研究中经光学相干断层扫描（optical coherence tomography, OCT）确认的视盘玻璃膜疣患者，且同意再次参与的受试者入组。参与者完成了适配视盘玻璃膜疣的美国国家眼科研究所视觉功能问卷-25（VFQ-25+）、黄斑及视神经乳头的系统性光学相干断层扫描，以及30°自动视野检查。本研究共纳入118例患者（共234只眼）。将双侧浅表性视盘玻璃膜疣患者（n=46）与双侧深层视盘玻璃膜疣患者（n=26）进行比较后发现，两组在一过性视觉模糊（73.9% vs. 73.1%，p=0.94）、夜盲症（78.3% vs. 61.5%，p=0.13）等症状方面均无显著差异，VFQ-25+评分亦无显著差异（80.7 vs. 85.8，p=0.06）。对单只患眼进行分析后发现，与深层视盘玻璃膜疣患眼（n=97，R=0.33，p=0.0011）相比，浅表性视盘玻璃膜疣患眼（n=137）的黄斑神经节细胞层、内核层体积及视盘周围视网膜神经纤维层厚度均显著更低（pR=0.75，p=7.4e-26）。尽管浅表性视盘玻璃膜疣与更显著的视功能下降相关，但不同位置的视盘玻璃膜疣患者的症状报告并无差异。不同患者表型间相似的VFQ-25+评分提示，视野及视网膜改变可能并未被患者轻易感知。