Werner syndrome with refractory cystoid macular edema and immunohistochemical analysis of WRN proteins in human retinas

BMC Ophthalmology

Case Report

Minoru Takemoto¹  Koutaro Yokote¹  Shuichi Yamamoto²  Satoshi Mizuno²  Mariko Kubota-Taniai²  Toshiyuki Oshitari²  Takayuki Baba²  Masayasu Kitahashi²  Sayon Roy³ 

[1] Department of Medicine, Division of Diabetes, Metabolism and Endocrinology, Chiba University Hospital, Chiba, Inohana 1-8-1, 260-8670, Chuo-ku, Chiba, Japan;Department of Ophthalmology and Visual Science, Chiba University Graduate School of Medicine, Chiba, Inohana 1-8-1, 260-8670, Chuo-ku, Chiba, Japan;Departments of Medicine and Ophthalmology, Boston University School of Medicine, 715 Albany Street, 02118, Boston, MA, USA;

关键词: Refractory cystoid macular edema;    WRN;    Retina;    Müller cell;    Immunohistochemistry;   

DOI  :  10.1186/1471-2415-14-31

 received in 2013-09-16, accepted in 2014-03-07,  发布年份 2014

来源: Springer

【 摘 要 】

BackgroundTo present our findings in a case of Werner syndrome with refractory cystoid macular edema (CME) and to determine the expression and the distribution of WRN proteins in human retinas.Case presentationA 35-year-old man with Werner syndrome who developed CME after YAG laser treatment was studied. Optical coherence tomographic (OCT) scans were used to examine the CME in the right eye. The patient received topical eye drops (0.1% bromfenac sodium hydrate twice daily and 1% dorzolamide hydrochloride thrice daily), sub-Tenon triamcinolone injection thrice, intravitreal bevacizumab injection twice, and pars plana vitrectomy of the right eye. Genetic analyses were performed to diagnose the disease. To examine the expression and distribution of WRN proteins in the retinas, immunohistochemistry for WRN proteins was performed in human retinas. The CME in the right eye was not improved by any of the treatments. During the follow-up period, CME developed in the left eye. Genetic analyses detected compound heterozygosity, Mut4 and Mut11, in the WRN gene and the individual was diagnosed with Werner syndrome. Immunohistochemical analysis of WRN proteins expression in human retinas showed that WRN proteins were expressed in the parts of the Müller cells in the inner nuclear layer and outer nuclear layer.ConclusionPatients with Werner syndrome can develop severe CME after laser treatment. A pathological link may exist between mutations in the WRN gene and the development of CME in patients with Werner syndrome.

【 授权许可】

CC BY   
© Oshitari et al.; licensee BioMed Central Ltd. 2014