Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1.

doi:10.1016/j.ophtha.2003.12.058

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Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1.

Ophthalmology - 1 Aug 2004

Tsilou Ekaterini T, Rubin Benjamin I, Reed George F, McCain Lessie, Huizing Marjan, White James, Kaiser-Kupfer Muriel I, Gahl William

Abstract excerpt

PURPOSE: To compare clinically 2 different subtypes of Hermansky-Pudlak syndrome (HPS), type 1 (HPS-1) and type 3 (HPS-3). DESIGN: Cross-sectional study of a series of patients. PARTICIPANTS: Sixteen patients with HPS-1 and 14 patients with HPS-3 were studied. METHODS: Complete eye examination, including best-corrected visual acuity and photographs and photographic grading of iris transillumination and macular...

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Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1.

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