A maternally inherited (mitochondrial) disease, Leber hereditary optic neuropathy (LHON) is characterized by acute or subacute bilateral loss of central vision, acquired red-green dyschromatopsia, and central or cecocentral scotomata in otherwise healthy patients (usually males) in their second to fourth decade of life. See BCSC Section 5, Neuro-Ophthalmology, for further discussion.

Optic Neuritis

Optic neuritis in childhood frequently presents after systemic infections such as viral illnesses. It can also be associated with immunizations and bee stings. The cause of the postinfectious form of viral optic neuritis is unknown. It has been speculated that an autoimmune process, triggered by a previous viral infection, results in a demyelinative injury.

Optic neuritis in children, in contrast with that in adults, is more frequently bilateral and associated with disc edema. Vision loss can be severe. Over half of affected children have systemic symptoms, including headache, nausea, vomiting, lethargy, or malaise.

Optic neuritis in children can occur as an isolated neurologic deficit or as a component of more generalized neurologic disease, such as acute disseminated encephalomyelitis, neuromyelitis optica, or multiple sclerosis. The relationship between optic neuritis and the development of multiple sclerosis, which is common in adults, is less clear in children. A small subset of children with optic neuritis develop signs and symptoms consistent with multiple sclerosis. Older age and MRI findings extrinsic to the visual system are associated with increased risk for MS. Most of the neurologic deficits are minor, but disability can be severe.

Treatment of optic neuritis in children is controversial. As vision loss is often bilateral, treatment with intravenous steroids should be considered in order to hasten visual recovery. The Optic Neuritis Treatment Trial did not specifically address the issue of treatment in children, so it is difficult to apply the results of this study to children. See also BCSC Section 5, Neuro-Ophthalmology.

Neuroretinitis denotes inflammatory disc edema associated with a stellate pattern of exudates in the macula (macular star; Fig 26-11). The etiology is most commonly Bartonella henselae infection (catscratch disease). Other infectious etiologies include mumps, Toxocara, tuberculosis, and syphilis. Patients with neuroretinitis are not at risk for developing multiple sclerosis.

Figure 26-11 Neuroretinitis. Inflammatory optic disc edema with a macular star. (Courtesy of Paul Phillips, MD.)

Waldman AT, Stull LB, Galetta SL, Balcer LJ, Liu GT. Pediatric optic neuritis and risk of multiple sclerosis: meta-analysis of observational studies. J AAPOS. 2011;15(5):441–446.

Papilledema

Papilledema refers to optic disc edema secondary to elevated intracranial pressure (ICP). It is frequently bilateral. Typically, visual acuity, color vision, and pupillary reactions are initially normal. However, visual dysfunction may occur from severe or chronic papilledema.

Increased ICP in children can be caused by a number of conditions (eg, hydrocephalus, mass lesions, meningitis, idiopathic intracranial hypertension; Table 26-2). A full evaluation, including neuroimaging followed by lumbar puncture, is indicated. In infants, increased ICP results in firmness and distension of the open fontanelles. Significantly elevated pressure is usually accompanied by nausea, vomiting, and headaches. Older children may describe transient visual obscurations. Esotropia and diplopia may result from sixth nerve palsy. The esotropia usually resolves once ICP is