Retinal dystrophy in a Japanese boy harboring the mitochondrial DNA T8993G mutation.

Background: Patients with the mitochondrial (mt) DNA T8993G mutation reportedly have variable neurologic manifestations. In these patients, retinal dystrophies progress from salt-and-pepper appearance to severe diffuse pigmentary retinopathy.

Case: A Japanese boy harboring the mtDNA T8993G mutation had hypotonia, ataxia, and developmental delay.