Fig. 1. Clinical features of HPS-1 patients of Indian descent.
(A) Reduced skin and hair pigmentation in HPS patients contrary to patients' ethnic background. Note that patients' iris colors are light brown, which is darker than seen in most HPS patients.
(B) Retinal photographs demonstrating patchy, reduced pigmentation in HPS patients compared to normal.
(C) Transillumination of patients' irises. Normally, light reflected from the retina is not transmitted through the iris due to pigmentation.
(D) Absence of platelet dense bodies compared to normal platelets with multiple dense bodies, which appear as discrete dark spots (arrows in normal platelets).