Julie Waldispühl-Geigl

Early Genotype-Driven Diagnosis of Hermansky-Pudlak Syndrome Type 4 in a Child With Oculocutaneous Albinism: An Ophthalmic Case Report

Hermansky-Pudlak syndrome (HPS) is a rare inherited multisystem condition characterized by oculocutaneous albinism, bleeding diathesis, and subtype-specific systemic complications, including pulmonary fibrosis and granulomatous colitis. Early diagnosis is essential because pulmon...