[OCT Article] Case Study: Advanced OCT Diagnostics for Buried Optic Nerve Head Drusen

This case study was originally published as a sponsored article in Ophthalmology Management. Original article can be found here: https://ophthalmologymanagement.com/resources/content-syndication-downloads/advanced-oct-diagnostics-for-buried-optic-nerve-head-druse/

A 24-year-old female patient with Down Syndrome presented with bilateral optic nerve head elevation initially suggestive of optic nerve edema. The patient had stable vision, denied headaches, and exhibited no other neurological symptoms. Ophthalmologic examination identified significant pseudopapilledema with blurred optic disc margins.

Utilizing the Optovue Solix by Visionix Optical Coherence Tomography (OCT), a detailed assessment was performed, revealing classic OCT characteristics of buried optic nerve head drusen (ONHD) [Figure 1]. The scans demonstrated dome-shaped elevations with distinct internal hyporeflective cores, representing homogeneous internal drusen material, surrounded by hyperreflective borders resulting from sharp optical interfaces between the drusen and surrounding tissues. This pattern aligns with the well-documented descriptions of buried drusen and falls into the “confluent” category per the Traber morphological classification system, which categorizes optic disc drusen into discrete, confluent, and peripapillary subtypes, each presenting unique structural features and clinical implications.

FIGURE 1. 12.0 x 6.0 mm raster scan OD taken on the Optovue Solix by Visionix.

Additional confirmatory testing included ocular ultrasonography (B-scan) [Figure 2], which revealed characteristic hyperreflective lesions indicative of calcified buried drusen, despite fundus autofluorescence not showing prominent autofluorescent signals. Fundus photography further supported the diagnosis by demonstrating optic nerve head elevation without hemorrhage or retinal edema typically seen in true papilledema [Figure 3].

FIGURE 2. OD Ocular Ultrasonography (B-scan*) revealed characteristic hyperreflective lesions indicative of calcified buried drusen. *Ultrasonography not from or available on the Optovue Solix.

FIGURE 3. Optovue Solix’s fundus photography OD demonstrating optic nerve head elevation without hemorrhage or retinal edema. *Autofluorescence not from or available on Optovue Solix.

Other OCT findings supportive of ONHD include focal irregularities within the optic nerve head, absence of subretinal fluid, and preservation of adjacent retinal architecture. General OCT features helpful in distinguishing ONHD from true papilledema include:

• Papilledema typically presents as smooth, dome-shaped elevation with diffuse thickening of the retinal nerve fiber layer (RNFL) and often subretinal fluid, indicating increased intracranial pressure.
• In papilledema, there is frequently an anterior inflection or forward bowing of Bruch’s membrane towards the vitreous cavity, a feature generally absent in ONHD.
• ONHD typically features irregular internal reflectivity, discrete hyporeflective cores, and hyperreflective margins without significant RNFL edema or surrounding fluid spaces.
• Papilledema often demonstrates a characteristic “lazy V” or triangular fluid space beneath the elevated optic nerve, absent in ONHD.

The OCT scan used (12.0 x 6.0 mm raster scan, scan quality rated 6/10) effectively illustrated these diagnostic features, confirming their structural nature [Figure 1]. Given the established prevalence of ONHD in patients with Down Syndrome (6.8%-8%), these findings underscore the importance and diagnostic utility of OCT imaging in this specific patient population.

The patient was advised ongoing monitoring through periodic OCT evaluations and complementary imaging modalities, such as B-scan ultrasonography, to assess potential progression or related complications, highlighting OCT’s pivotal role in managing and counseling patients with ONHD.

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DR. ROBERT ROTHSTEIN is the founder of Eyenamics NY. DR. ROTHSTEIN is a board-certified ophthalmologist specializing in glaucoma, neuro-ophthalmology, and cataract surgery. DR. ROTHSTEIN has trained ophthalmology residents at the New York Eye and Ear Infirmary and has taught optometry students at the SUNY College of Optometry. He is an attending surgeon at the New York Eye and Ear Infirmary and is a member of the New York Glaucoma Society, the American Glaucoma Society, the North American Neuro-Ophthalmology Society, and the American Academy of Ophthalmology.

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