Medical Subject Headings

Optic Disk Drusen, Papilledema; Pseudoxanthoma Elasticum; Alagille Syndrome; Glycosaminoglycans; Retinitis Pigmentosa; Inheritance Patterns


Background: Optic nerve (or disc) drusen is the presence of hyaline bodies at the optic nerve head. The drusen may be visible upon funduscopic examination or may present as buried. Timely diagnosis and responsible imaging may help inform the patient of the potential for future concerns. The long-term prognosis is good for most patients, however, they may experience progressive peripheral vision loss that may reduce the patient’s quality of life. Neuroprotective options have previously been discussed with minimal clinical effectiveness, however, new medications may aid in future treatment.

Case Report: A patient presenting with mild and slowly progressing vision loss was examined and found to have optic disc drusen. Visual fields were done to quantify the extent of vision loss and revealed the patient no longer met the criteria for his commercial driver’s license. Findings, imaging, and treatment options are discussed.

Conclusion: While no effective treatments exist currently, the potential benefit of brimonidine as a neuroprotective agent is discussed along with other future potential options. An assessment of the viability of the patient’s cost benefit ratio is discussed.

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Creative Commons Attribution 4.0 International License
This work is licensed under a Creative Commons Attribution 4.0 International License.

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