Main Points from Experts InSight Podcast: Updates on Optic Disc Drusen (2025)
- Optic Disc Drusen Studies (ODS) Consortium
- International group (48 members, 15 countries) led from Denmark
- Over 70 publications; pioneered standardized research on optic disc drusen (ODD)
- ODD appears to be inherited in an autosomal dominant fashion (originally described by Sven Lorentzen in Denmark)
- Current major focus: identifying the genetic causes of ODD (whole-genome sequencing)
- Genetics of Optic Disc Drusen
- One identified candidate gene: ABCC6 (same gene mutated in pseudoxanthoma elasticum; involved in calcium regulation)
- Likely multiple genes involved (heterogeneous condition)
- Ongoing recruitment of families with ≥4 affected members for genetic studies
- High prevalence in Utah due to Scandinavian ancestry
- Imaging – Major Recent Advance
- Enhanced Depth Imaging OCT (EDI-OCT) of the optic nerve (especially Heidelberg Spectralis) is now the preferred diagnostic method
- More sensitive than B-scan ultrasound or fundus autofluorescence, particularly for buried/superficially invisible drusen
- Classic EDI-OCT appearance: hyporeflective core with hyperreflective shell; early “nascent” drusen appear as horizontal hyperreflective lines deep to Bruch’s membrane
- Has largely replaced ultrasound in many practices
- Differential Diagnosis – Pseudopapilledema vs True Papilledema
- EDI-OCT + RNFL OCT usually distinguishes buried drusen from true disc edema (both can coexist)
- Especially helpful in children with crowded/hyperopic discs
- Management & Follow-up (Dr. Katz’s approach)
- Highly individualized
- Mild ODD, no field loss → often no routine follow-up needed; annual IOP check recommended
- Severe ODD with significant field loss (even in young patients) → closer monitoring (driving safety, school accommodations)
- Consider brimonidine for ocular hypertension (possible neuroprotective effect)
- Co-existing glaucoma + ODD is very challenging
- Baseline visual field; repeat only if symptoms or concern for progression
- Complications & Counseling
- Increased risk of non-arteritic anterior ischemic optic neuropathy (NAION), especially in younger patients
- Other vascular complications possible (e.g., retinal vein occlusion)
- Counseling: most patients never have issues from ODD, but emphasize general vascular risk factor control and annual eye exams; avoid overly alarming patients
- Future Directions
- Continued genetic research (ODS Consortium)
- AI likely to play a role in interpreting EDI-OCT for ODD detection soon
- Potential for AI to help distinguish drusen from mild papilledema
- Resources
- opticdiscdrusen.com (ODS Consortium website)
- ODS paper: “Diagnostic Optic Disc Drusen in the Modern Imaging Era” (excellent imaging examples)
Key take-home: EDI-OCT has revolutionized ODD diagnosis; genetics research is active; most patients do well with minimal or no follow-up, but stay vigilant for complications and vascular risk factors.
