The hermansky-pudlak syndrome: clinical features and imperatives from an ophthalmic perspective.

[oculocutaneous albinism]

The Hermansky-Pudlak Syndrome (HPS ) is a rare , autosomal recessive condition comprising nine genetically heterogeneous entities that feature oculocutaneous albinism (OCA ) and bleeding tendency as their principal clinical manifestations . The pathogenesis of HPS involves disturbances in the biogenesis and trafficking of lysosome-related organelles . While the ophthalmologist is trained to address the ocular manifestations of OCA , it is critical for the provider to consider HPS when examining OCA patients as its systemic sequelae may be associated with morbidity and mortality . If there is suspicion of HPS in a patient with albinism , the ophthalmologist should enlist the aid of consultants to confirm the diagnosis and monitor for systemic features . As the nine HPS subtypes explored in this article vary widely in the character and severity of their associated systemic manifestations , some authors advocate determining the specific gene defect in each HPS patient in order to optimize care and provide anticipatory guidance .