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Arch Ophthalmol. 1999;117(2):251-252.

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

NEW ENGLAND JOURNAL OF MEDICINE

Genetic Defects and Clinical Characteristics of Patients With a Form of Oculocutaneous Albinism (Hennansky-Pudlak Syndrome)

William A. Gahl, M.D., Ph.D., Mark Brantly, M.D., Muriel I. Kaiser-Kupfer, M.D., Fumino Iwata, M.D., Senator Hazelwood, B.S., Vorasuk Shotelersuk, M.D., Lynn F. Duffy, M.D., Ernest M. Kuehl, James Troendle, Ph.D., and Isa Bernardini, M.Ed.

Background Hermansky–Pudlak syndrome is characterized by oculocutaneous albinism, a storage-pool deficiency, and lysosomal accumulation of ceroid lipofuscin, which causes pulmonary fibrosis and granulomatous colitis in some areas. All identified affected patients in northwest Puerto Rico are homozygous for a 16-bp duplication in exon 15 of a recently cloned gene, HPS. We compared the clinical and laboratory characteristics of these patients with those of patients without the 16-bp duplication.

Methods Forty-nine patients—27 Puerto Ricans and 22 patients from the mainland United States who were not of Puerto Rican descent—were given a diagnosis on the basis . . . [Full Text of this Article]