The unique association of iris heterochromia with Hermansky-Pudlak syndrome.

Research paper by Phillip P Radke, Lisa A LA Schimmenti, Cheri C Schoonveld, Erick D ED Bothun, C Gail CG Summers

Indexed on: 24 Sep '13Published on: 24 Sep '13Published in: Journal of AAPOS


Melanin biosynthesis is reduced in oculocutaneous albinism, an autosomal recessive disorder. Hermansky-Pudlak syndrome is associated with oculocutaneous albinism but also has systemic complications. The ocular and systemic phenotypes vary, depending, in part, on the genetic mutations. This report presents a case of a patient with Hermansky-Pudlak syndrome and the unique association of iris heterochromia.