The unique association of iris heterochromia with Hermansky-Pudlak syndrome

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

doi:10.1016/j.jaapos.2013.05.012

The unique association of iris heterochromia with Hermansky-Pudlak syndrome

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

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7 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 language	English (US)
Pages (from-to)	542-544
Number of pages	3
Journal	Journal of AAPOS
Volume	17
Issue number	5
DOIs	https://doi.org/10.1016/j.jaapos.2013.05.012
State	Published - 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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title = "The unique association of iris heterochromia with Hermansky-Pudlak syndrome",

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.",

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AU - Schoonveld, Cheri

AU - Bothun, Erick D

AU - Summers, Carole G

N1 - 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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AB - 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.

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The unique association of iris heterochromia with Hermansky-Pudlak syndrome

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