IARS2 and cataract: In two Chinese probands, compound heterozygous IARS2 mutations associated with sporadic pediatric cataracts (c.607G>C, p.Gly203Arg and c.2575T>C, p.Phe859Leu; c.2446C>T, p.Arg816* and c.2575T>C, p.Phe859Leu) were found, representing the mildest clinical presentation among IARS2-related disorders [80].