Milder ocular findings in Hermansky–Pudlak syndrome type 3 compared with Hermansky–Pudlak syndrome type 1
ET Tsilou, BI Rubin, GF Reed, L McCain, M Huizing… - Ophthalmology, 2004 - Elsevier
ET Tsilou, BI Rubin, GF Reed, L McCain, M Huizing, J White, MI Kaiser-Kupfer, W Gahl
Ophthalmology, 2004•ElsevierPURPOSE: 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 transparency
using a previously established grading system. RESULTS: Snellen visual acuity was …
(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 transparency
using a previously established grading system. RESULTS: Snellen visual acuity was …
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 transparency using a previously established grading system.
RESULTS
Snellen visual acuity was 20/160−2 in the HPS-1 group and 20/125+2 in the HPS-3 group (P = 0.017). Iris grading was statistically significant for less translucence in the HPS-3 patients. The HPS-3 patients also tended to have less transparent maculas, but the difference was not statistically significant.
CONCLUSIONS
Patients with HPS-3 have less severe ophthalmic manifestations than patients with HPS-1. Ophthalmologists treating patients with albinism should consider HPS in their differential diagnosis even in the case of mild iris and macular hypopigmentation.
Elsevier