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 < .0001) and a stronger correlation between perimetric mean deviation (MD) and ODD size (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.