Chapter 106 Optic atrophy in infancy and childhood
2. Perinatal: the developmental condition merges with optic atrophy1 and some cases have both a developmental optic disk anomaly and optic atrophy, as in Figures 106.1 and 106.2, due to loss of neurons at different times.
Fig. 106.1 This child has septo-optic dysplasia and presented because of nystagmus at 7 months old. He suffered a near-fatal episode when he was years old when his parents felt his vision became significantly worse. The optic disks are clearly hypoplastic but the temporal segments, which is where any surviving axons would be, are very pale. The inferior parts contain residual nerve fibers which can be best seen about disk diameter away from the optic disk.
Fig. 106.2 This unilateral optic disk anomaly, a “morning glory disk anomaly,” was associated with functionally good vision in infancy. The child has subretinal fluid under the macula which has reduced the acuity. The substance of the optic disk is more pale than one would expect and the peripapillary nerve fiber layer is thin, given the previously good acuity, suggesting an event which has resulted in loss of nerve fibers.
Therefore, optic atrophy may occur after damage in the later prenatal, perinatal, or postnatal periods in children. Small children with optic atrophy do not have a pathognomonic mode of presentation connected with the optic atrophy itself. They present with either general behavioral characteristics of visual loss with or without nystagmus or because of other associated symptoms such as pain, headache, or neurologic symptoms.
It is not possible to establish a cause in every case; the cause varies enormously between centers. A tertiary referral center sees cases referred to their neurology, neurosurgery, or metabolic departments2 while developmental centers see mainly cases associated with cerebral palsy. Prevalence is difficult to establish.
Fig. 106.3 Construct of the more frequent causes, symptoms, and signs of optic atrophy in acute and chronic categories. ADOA, autosomal dominant optic atrophy; CVI, cerebral visual impairment; Hx, history; ICP, intracranial pressure; LHON, Leber’s hereditary optic neuropathy; NF1, neurofibromatosis type 1; NMO, neuromyelitis optica.
If there is a history of pre- or perinatal problems, they may well be the cause, especially if there is a history of significant hypoxia. One should be cautious about attributing optic atrophy to a mild perinatal insult. It is rare for optic atrophy caused by perinatal problems to be unassociated with other, significant central nervous system damage.