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Fig. 4 | Orphanet Journal of Rare Diseases

Fig. 4

From: Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

Fig. 4

Ophthalmologic Findings in Chinese Pediatric Patients with Hermansky-Pudlak Syndrome or Non-syndromic Oculocutaneous Albinism Type 1. Representative images show light-colored eyes and eyelashes as well as iris transillumination in Chinese children with HPS-1 (a, e), HPS-3 (b, f), or OCA1 (c, d, g, h). Pigmentation defects in pediatric patients with HPS, particularly one with HPS-3 and dark brown irides, are not as severe as those in two patients with OCA1 and light blue irides. Eyelashes are blond in a child with HPS-1, dark brown in one with HPS-3, and white in two with OCA1

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172