Details

Autor(en) / Beteiligte

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

Titel

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

Ist Teil von

• Ophthalmology (Rochester, Minn.), 2004-08, Vol.111 (8), p.1599-1603

Ort / Verlag

New York, NY: Elsevier Inc

Erscheinungsjahr

2004

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• To compare clinically 2 different subtypes of Hermansky–Pudlak syndrome (HPS), type 1 (HPS-1) and type 3 (HPS-3). Cross-sectional study of a series of patients. Sixteen patients with HPS-1 and 14 patients with HPS-3 were studied. 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. 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. 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.