Amy Preston

1 Introduction Infantile Cerebellar Retinal Degeneration (ICRD) OMIM #614559 is an autosomal recessive disorder caused by homozygous or compound heterozygous variants in the human aconitase 2 (ACO2) gene (located on chromosome 22q13.2). The condition has a prevalence of < 1:1 000 000, with less than 30 patients reported worldwide [1].