The unique association of iris heterochromia with Hermansky-Pudlak syndrome

Phillip Radke, Lisa A Schimmenti, Cheri Schoonveld, Erick D Bothun, Carole G Summers

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)542-544
Number of pages3
JournalJournal of AAPOS
Volume17
Issue number5
DOIs
StatePublished - Oct 2013

Bibliographical note

Funding 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 .

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