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 (<i>n</i> = 46) to those with bilateral deep ODD (<i>n</i> = 26), there were no significant differences in symptoms such as transient visual obscurations (73.9% vs. 73.1%, <i>p</i> = .94) or nyctalopia (78.3% vs. 61.5%, <i>p</i> = .13), nor in VFQ-25+ scores (80.7 vs. 85.8, <i>p</i> = .06). Analyzing individual eyes, eyes with superficial ODD (<i>n</i> = 137) showed significantly lower macular ganglion cell layer and inner nuclear layer volumes and peripapillary retinal nerve fiber layer thickness (<i>p</i> &lt; .0001) and a stronger correlation between perimetric mean deviation (MD) and ODD size (<i>R</i> = 0.75, <i>p</i> = 7.4e-26) compared to eyes with deep ODD (<i>n</i> = 97, <i>R</i> = 0.33, <i>p</i> = .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.