Hermansky-Pudlak syndrome 3

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene. Affected individuals have mild oculocutaneous/ocular hypopigmentation with nystagmus and reduced visual acuity, and a generally mild bleeding diathesis. Compared with other forms, systemic complications (e.g., pulmonary fibrosis or colitis) are uncommon and the overall phenotype is milder.