Pseudopapilledema refers to any elevated anomaly of the optic disc that resembles papilledema (see Table 26-2). Conditions that are frequently confused with papilledema in children include disc drusen, hyperopic discs, and prominent disc glial tissue. Pseudopapilledema can be differentiated from true papilledema by the absence of disc hyperemia and retinal hemorrhages and exudates, and by the lack of obscuration of vessels at the disc margin (Fig 26-13). Pseudopapilledema can be associated with anomalous branching of the large peripapillary retinal vessels. However, clinical examination findings can be ambiguous.
Most children with pseudopapilledema do not have other related ophthalmic or systemic abnormalities. However, pseudopapilledema is associated with retinal dystrophy, Down syndrome, and Alagille syndrome. Down syndrome is associated with IIH as well; thus, an elevated optic disc in a child with Down syndrome should not be assumed to be benign. If clinical symptoms and signs of elevated ICP (headaches, sixth nerve palsy, true papilledema) are present, neuroimaging followed by lumbar puncture should be obtained.
A, Pseudopapilledema. There is anomalous branching (arrows) of the large retinal vessels without disc hyperemia, retinal hemorrhages, or exudates. B, Optic disc drusen seen as refractile opacities on the disc surface (arrows). C, Ultrasonographic image shows a bright spot in the optic disc (arrows), consistent with drusen.
(Parts A and B courtesy of Paul Phillips, MD; part C courtesy of Edward G. Buckley, MD.)
Intrapapillary drusen, the most common cause of pseudopapilledema in children, can appear within the first or second decade of life (Fig 26-14; see also Fig 26-13B). Drusen are frequently inherited (autosomal dominant); thus, examination of the parents is helpful when drusen are suspected in children.
Clinically, the elevated disc does not obscure the retinal arterioles lying anteriorly and often has an irregular border suggesting the presence of drusen beneath the surface. There is no dilatation of the papillary network, and superficial retinal hemorrhages and exudates are absent. Peripapillary subretinal hemorrhages and subretinal neovascular membranes rarely occur. When drusen are not buried, they appear as shiny refractile bodies visible on the disc surface, with a gray-yellow translucent appearance. Visual field defects are frequently associated; inferior nasal field defects are common. Concentric narrowing, an arcuate scotoma, and central defects can also occur. These defects can be slowly progressive. Visual acuity is rarely affected.
A, Superficial optic disc drusen, right eye. B, Appearance with autofluorescence. C, Optical coherence tomography image from a different child with drusen reveals the typical “lumpy bumpy” appearance.
(Courtesy of Wayne T. Cornblath, MD.)
In some patients, fundus evaluation can identify drusen as the cause of the swollen disc appearance. In others, B-scan ultrasonography can be helpful in detecting bright calcific reflections at the optic disc (see Fig 26-13C). Autofluorescence imaging and optical coherence tomography can also be useful (see Fig 26-14).
Most children with optic disc drusen do not have other related ophthalmic or systemic abnormalities. However, children with retinal dystrophy or pseudoxanthoma elasticum have a higher incidence of optic disc drusen compared with the general population.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.