Abstract
Purpose :
Optic disc drusen (ODD) are calcified deposits in the optic disc that occur in ~2.0% of the general population. Hereditary ODD most commonly occur in an autosomal dominant pattern, typically affecting multiple generations in families, and relatives of those with ODD are 10 times more likely to be affected. Anecdotally, we observed that some patients with autosomal dominant ODD exhibit some of the most severe disease phenotypes, leading to severe vision loss. We performed a case-control study to compare visual function and structure of autosomal dominant and sporadic ODD.
Methods :
We identified 37 eyes from patients with sporadic ODD, 27 eyes from patients with autosomal dominant ODD, and 27 control eyes. Although all individuals with familial ODD had known affected family members, we were unable to verify that those with sporadic disease had no other affected family members. Those with syndromic diseases or other causes of vision loss were excluded from the study. We performed high quality static perimetry (Zeiss), spectral-domain optical coherence tomography (OCT) (Zeiss), and swept-source OCT angiography (OCTA) (200-kHz, Zeiss). We analyzed OCTA with custom MATLAB scripts for 6 parameters after large vessel removal. We calculated statistical significance using the Mann-Whitney U test, with p < 0.05 as the significance threshold.
Results :
The majority of patients in both sporadic and familial ODD groups had relatively good visual acuities and mild visual field loss, but there were no significant differences between the two groups. Compared with controls, both ODD groups showed significant thinning of the peripapillary retinal nerve fiber layer (sporadic: p = 0.0003; familial: p = 0.03) and macular ganglion cell complex thickness (sporadic: p = 0.002; familial: p = 0.002), with no differences between the two groups. Both ODD groups exhibited a significant decrease in optic disc OCTA vessel area density, vessel skeleton density, and vessel complexity index, but there was no difference in vessel area density or vessel complexity index between the two groups.
Conclusions :
Although some patients with familial ODD exhibited some of the most severe disease phenotypes, visual function and structural measurements were similar between autosomal dominant and sporadic ODD, likely related to variable penetrance of disease in familial cases and patient-specific factors affecting the severity of disease in general.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.