HPS3 and pathologic nystagmus: In this study, we identified a novel homozygous frameshift mutation (NM_032383.5, c.1231dupG/p.Aps411GlyfsTer32) of HPS3 in a consanguineous family that presented with typical HPS phenotypes such as albinism, visual impairment, nystagmus, pulmonary fibrosis, and bleeding diathesis.