Infantile cerebellar-retinal degeneration

Infantile cerebellar-retinal degeneration (ICRD) is a disorder characterized by profound psychomotor retardation and progressive visual loss, including optic nerve and retinal atrophy. Recently, missense mutations in a TCA enzyme, mitochondrial aconitase (ACO2), catalysing interconversion of citrate into isocitrate, have been reported in a sibship with infantile-onset encephalopathy, optic nerve involvement, and cerebellar atrophy.