Ocular manifestations of subacute necrotizing encephalomyelopathy (Leigh's disease)

Subacute necrotizing encephalomyelopathy, or Leigh's disease, occurred in three children in one family. Each child developed normally for the first few months of life, then physical growth and development arrested. They became weak and ocular neurologic abnormalities appeared, including blepharoptosis, nystagmus, strabismus secondary to ocular muscle palsy, and optic atrophy. Each child expired after a brief illness. On histologic examination of the eyes of one child, vacuolation of the iris pigment epithelium was present. In the retina, there was loss of ganglion cells, and the nerve fiber layer was thinned. The optic nerves and chiasm showed demyelination.