A 14-year-old girl presents with elevated optic discs noted on screening. She denies headaches with nausea, has normal visual acuity, no RAPD, and full confrontation fields. On dilated examination, the discs appear small and crowded with scalloped margins. At the temporal margin of the right disc, several yellowish refractile bodies are visible just beneath the surface (marked **A** in the diagram). The retinal vessels are NOT obscured as they cross the disc margin, and there is no disc hyperaemia or peripapillary haemorrhage. B-scan ultrasonography shows highly reflective calcified bodies within the nerve head. Which of the following is the most likely diagnosis?

Question

Accepted Answer

D. Optic disc drusen with pseudopapilloedema. ## Why Optic disc drusen with pseudopapilloedema is right

The lumpy yellowish refractile bodies visible at the disc margin (marked **A**) are pathognomonic for optic disc drusen. These are calcified hyaline deposits composed of glycoprotein and lipid that accumulate in the optic nerve head. The key distinguishing features that confirm this diagnosis and exclude true papilloedema are: (1) the vessels are NOT obscured as they cross the disc margin (in true papilloedema, vessels are obscured), (2) absence of disc hyperaemia and peripapillary haemorrhage, (3) scalloped rather than smoothly blurred margins, and (4) B-scan ultrasonography showing highly reflective calcified bodies that persist at low gain—this is the gold standard for confirming drusen. The clinical presentation of pseudopapilloedema (elevated discs mimicking papilloedema) with normal visual function, normal colour vision, and early perimetric changes (enlarged blind spot) is typical. The patient's normal BMI, absence of risk factors for idiopathic intracranial hypertension, normal MR venography, and benign clinical course all support optic disc drusen rather than true papilloedema. [Survey of Ophthalmology 2018; review on optic disc drusen]

## Why each distractor is wrong

- **Acute papilloedema from raised intracranial pressure**: True papilloedema presents with smoothly blurred disc margins (not scalloped), obscured vessels at the margin, disc hyperaemia, peripapillary haemorrhages, and cotton-wool spots. This patient lacks these features and has calcified bodies on B-scan, which are not seen in papilloedema. The normal MR venography and absence of systemic symptoms further exclude this.

- **Congenital optic nerve hypoplasia**: While this can present with small discs, it does not produce yellowish refractile bodies at the disc margin or calcified deposits on B-scan. The visual acuity is normal (6/6) and colour vision is intact, which would be more severely affected in significant hypoplasia.

- **Optic neuritis with disc swelling**: Optic neuritis typically presents with acute vision loss, colour vision defects (which this patient lacks), and a relative afferent pupillary defect (absent here). There is no inflammation or hyperaemia of the disc, and B-scan would not show calcified bodies. The clinical course and imaging findings are incompatible with optic neuritis.

**High-Yield:** Optic disc drusen = yellowish refractile bodies at disc margin + vessels NOT obscured + B-scan shows calcified deposits = pseudopapilloedema (benign); true papilloedema = blurred margins + obscured vessels + hyperaemia + haemorrhages.

[Survey of Ophthalmology 2018; review on optic disc drusen]

Answer

A. Optic neuritis with disc swelling

Answer

B. Acute papilloedema from raised intracranial pressure

Answer

C. Congenital optic nerve hypoplasia

Explanation

Why Optic disc drusen with pseudopapilloedema is right

Why each distractor is wrong

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