WFS1 and pathologic nystagmus: Based on the genetic analysis of the Chinese pedigree, we have identified novel heterozygous mutations of PAX6 c.221G>A and WFS1 c.2070_2079del that are associated with severe congenital cataract even causing blindness in childhood with nystagmus, while the monogenic PAX6 c.221G>A mutation alone can also cause obvious bilateral congenital cataract.