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.
Bibliographical noteFunding Information:
This work was supported in part by an unrestricted grant to the Department of Ophthalmology from Research to Prevent Blindness Inc, New York, NY .