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Am J Ophthalmol Case Rep. 2016 Jun 01;3:39-42. doi: 10.1016/j.ajoc.2016.05.005. eCollection 2016 Oct.

[No title available]

American journal of ophthalmology case reports

Samaneh Davoudi, Daniel Navarro-Gomez, Lishuang Shen, Cindy Ung, Aiai Ren, Lynn Sullivan, Mindy Kwong, Maria Janessian, Jason Comander, Xiaowu Gai, Ann-Marie Lobo, George N Papaliodis, Lucia Sobrin

Affiliations

  1. Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.
  2. Children's Hospital, University of Southern California, Los Angeles, CA, USA.
  3. Department of Ophthalmology, University of Illinois-Chicago, Chicago, IL, USA.

PMID: 29503906 PMCID: PMC5757392 DOI: 10.1016/j.ajoc.2016.05.005

Abstract

PURPOSE: Identifying genetic risk factors for developing sarcoidosis-associated uveitis could provide insights into its pathogenesis which is poorly understood.We determine if variants in

METHODS: In this genetic case-control study, 51 total subjects were enrolled: 39 patients diagnosed with sarcoid-related uveitis and 12 patients with systemic sarcoidosis without ocular involvement as controls. Sanger sequencing of the eleven exons of the

RESULTS: There were no significant differences in

CONCLUSIONS: Despite the phenotypic overlap between sarcoidosis and Blau syndrome, none of the established pathogenic

Keywords: Genetics; NOD2; Sarcoidosis; Uveitis

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