In this study, the novel 517 kb heterozygous deletion (chr11:31,139,019–31,655,997) downstream of PAX6 containing four annotated genes, DCDC1, DNAJC24, IMMP1L, and ELP4, is likely to be the cause of the familial aniridia in this Chinese family. The gene discussed is PAX6; the disease is isolated aniridia.