The unique association of iris heterochromia with Hermansky-Pudlak syndrome.
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.
School of Medicine, University of Minnesota, Minneapolis, Minnesota.
Phillip
P
Radke
Lisa A
LA
Schimmenti
Cheri
C
Schoonveld
Erick D
ED
Bothun
C Gail
CG
Summers
D016115:Albinism, Oculocutaneous / Q000150:complications; D005260:Female; D022861:Hermanski-Pudlak Syndrome / Q000150:complications*; D006801:Humans; D007223:Infant; D007499:Iris Diseases / Q000209:etiology*; D010859:Pigmentation Disorders / Q000209:etiology*