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Min Zhou, MD; Libe Gradstein, MD; John A. Gonzales; Ekaterini T. Tsilou, MD; William A. Gahl, MD, PhD; Chi-Chao Chan, MD

Arch Ophthalmol. 2006;124:1048-1051.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

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 involvement^3-4 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).

Report of a Case

This study was approved by the National Human Genome Research Institute and National Eye Institute institutional review boards for human subjects, and informed consent was obtained from the patient. A 43-year-old . . . [Full Text of this Article]

Pathologic Findings

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