Optic atrophy in children can be inherited (autosomal dominant, autosomal recessive, X-linked, or mitochondrial) or can be secondary to anterior visual pathway disease such as inflammation (optic neuritis), perinatal hypoxic–ischemic injury, hydrocephalus, or optic nerve or chiasmal tumors. Table 26-1 lists causes of acquired optic atrophy. Neuroimaging should be considered for all patients with optic atrophy of undetermined etiology because tumor or hydrocephalus is present in over 40% of these cases. Specific underlying gene defects may be inferred from coexisting systemic features (eg, Wolfram syndrome or Behr optic atrophy).
Dominant Optic Atrophy, Kjer Type
Dominant optic atrophy is characterized by bilateral slow loss of central vision, usually before 10 years of age. It is caused by heterozygous mutations in OPA1. Visual acuity ranges from 20/40 to 20/100, with visual acuity rarely worse than 20/200. Visual field tests show central or cecocentral scotomata with normal peripheral isopters. Color vision testing reveals a blue dyschromatopsia. The optic disc shows a characteristic temporal wedge of pallor, often with triangular excavation (Fig 26-10).
Table 26-1 Causes of Acquired Optic Atrophy in Childhood
A, The optic disc, right eye, shows temporal pallor. The left eye was similar in this boy with dominant optic atrophy and confirmed heterozygous OPA1 mutation. B, Corresponding optical coherence tomography image shows a lack of nerve fiber and ganglion cell layers (left eye was similar).
(Courtesy of Arif O. Khan, MD.)
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.