Patient Presentation
A pediatric resident was presenting a patient to the attending, who was A 14-year-old male who presented for well care and was being followed by ophthalmology for optic disc drusen. “Optic disc drusen? Really? I just had a teenage girl with that last week. It isn’t the same family is it?” she asked. They looked at the patient identifiers and found it to be two different families. “I know we work at an academic health center, but what are the chances we see this twice so close together?” she mused. She continued, “I think my fundoscopic exam skills are being put to the test as I also had a patient we were worried about a potential brain tumor this week too.”

Discussion
Optic disc drusen (ODD) are acellular deposits in the optic disc that can simulate true papilledema. They are often buried in young children and become more superficial with aging (average age ~12 years). The prevalence is 0.4% in children and in adults is 0.5 – 2.4%. They are inherited with family members having a 10x increased risk. Many patients are asymptomatic and ODD is discovered on incidental examination. Patients need to be monitored as visual field defects (up to 50% of children) can occur especially with aging. Other complications can include retinal vascular occlusions, hemorrhages, and anterior ischemic optic neuropathy. True papilledema can occur concomitantly with ODD. “[ODD] in children are typically bilateral and are more likely to be buried than in adults. Thus, they may be difficult to distinguish from true optic disc edema, which mandates exploration for secondary causes of increased intracranial pressure, such as a mass lesion of the brain or pseudotumor cerebri syndrome. Ancillary testing, …may be helpful in distinguishing between [ODD] and true disc edema, although these tests may be less sensitive for detecting buried drusen in children. It is important to consider [ODD] in the differential for papilledema, as 50 to 55% of children initially diagnosed with papilledema have [ODD] as their final diagnosis.”

Learning Point
Papilledema is the swelling of the optic nerves due to increased intracranial pressure. It can manifest as transient and then a loss of visual fields which can be permanent. On physical examination “[f]undoscopy, true papilledema is characterized by the presence of optic disc hyperemia, peripapillary retinal nerve fiber layer hemorrhaging and edema, distension of retinal veins, loss of spontaneous pulsations of retinal veins close to the optic disc, and disc elevation.”

For the generalist physician, pediatric fundoscopic examination is hindered due to patient age, and cooperation. Often only fleeting glimpses can be visualized. Generalists therefore often will refer patients to ophthalmology for a more complete examination and determination of true papilledema and additional evaluation if needed.

The causes of papilledema include:

• Idiopathic intracranial hypertension (IHH, aka Pseudotumor cerebri)
• Secondary
  • Central nervous system tumor
  • Obstructive hydrocephalus or other obstruction of the CSF outflow tract
  • Craniosynostosis
  • Dural venous sinus thrombosis
  • Meningitis
  • Medication
• Optic disk drusen (ODD)

In a major pediatric academic health center, they had an estimated rate of ~8 patients/year with IHH, and ~17 patients/year with a secondary cause which was mainly due to brain tumors (37%).

Pseudotumor cerebri is more common in females and obesity. This is true for adolescents and adults. This is not true in prepubertal children where there is no difference in gender or obesity presence.

Questions for Further Discussion
1. What are causes of red eyes? A review can be found here
2. What medications can cause pseudotumor cerebri? A review can be found here
3. What are common causes of blindness in children? A review can be found here

Related Cases

Disease: Papilledema | Eye Diseases | Vision Impairment and Blindness

Symptom/Presentation: Health Maintenance and Disease Prevention

Specialty: Ophthalmology

Age: Teenager

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Eye Diseases and Vision Impairment and Blindness.

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Chang MY, Pineles SL. Optic disk drusen in children. Surv Ophthalmol. 2016;61(6):745-758. doi:10.1016/j.survophthal.2016.03.007

Heidary G. Pediatric Papilledema: Review and a Clinical Care Algorithm. Int Ophthalmol Clin. 2018;58(4):1-9. doi:10.1097/IIO.0000000000000242

Mathis S, Le Masson G, Soulages A, et al. Papilledema and Peripheral Neuropathies. Neurologist. 2019;24(6):185-193. doi:10.1097/NRL.0000000000000250

Chang MY, Binenbaum G, Heidary G, et al. Imaging Methods for Differentiating Pediatric Papilledema from Pseudopapilledema: A Report by the American Academy of Ophthalmology. Ophthalmology. 2020;127(10):1416-1423. doi:10.1016/j.ophtha.2020.03.027

Author
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa