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Clinicopathologic Reports, Case Reports, and Small Case Series
July 2006

Ocular Pathologic Features of Hermansky-Pudlak Syndrome Type 1 in an Adult

Arch Ophthalmol. 2006;124(7):1048-1051. doi:10.1001/archopht.124.7.1048

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease, characterized by a triad of oculocutaneous albinism (OCA), bleeding diathesis due to deficiency of dense bodies in platelets, and lysosomal accumulation of ceroid lipofuscin.1 Seven genetic subtypes of HPS have been identified in humans2; HPS1 on chromosome 10q23 is the most common and represents a founder effect in northwest Puerto Rico.1 The clinical features of HPS and its ophthalmic involvement3,4 are well documented, but no ocular histopathology has been published (to our knowledge). Herein, we describe the ocular histopathology of an adult patient with HPS type 1 (HPS-1).