Hermansky-Pudlak syndrome 8

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene that impairs melanosomes and platelet dense‑granule formation. Individuals show generalized hypopigmentation with visual impairment (nystagmus, foveal hypoplasia, optic pathway misrouting) and a platelet‑type bleeding diathesis. The severity of bleeding is variable across reported cases.