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Werner syndrome accompanied with refractory CME and WRN proteins expression in human retinas
Author(s) -
OSHITARI T,
KITAHASHI M,
MIZUNO S,
BABA T,
KUBOTATANIAI M,
ROY S,
YAMAMOTO S
Publication year - 2012
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2012.s072.x
Subject(s) - werner syndrome , ophthalmology , medicine , vitrectomy , triamcinolone acetonide , pars plana , premature aging , microbiology and biotechnology , genetics , biology , gene , visual acuity , helicase , rna
Purpose To present a case of Werner syndrome accompanied with refractory cystoid macular edema (CME), and analyze the expression and the distribution of WRN proteins in human retinas. Methods A 35‐year‐old individual with Werner syndrome exhibited CME after YAG laser treatment. Optical coherence tomography (OCT) scans were indicative of 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 in the right eye. Genetic analyses were performed to conduct diagnosis of the individual. To examine the expression and distribution of WRN proteins in the retinas, immunohistochemistry for WRN proteins in human retinas was performed. Results CME in the right eye could not be improved by any of the treatment. During the follow‐up period, CME developed in the left eye. Genetic analyses detected compound heterozygosity of Mut4 and Mut11 in WRN gene and the individual was diagnosed with Werner syndrome. Immunohistochemical analysis of WRN proteins expression in human retinas indicated that WRN proteins were expressed in Müller cells of the inner nuclear layer and the outer nuclear layer. Conclusion Patients with Werner syndrome may develop severe CME. A pathological link may exist between the potential mutation in WRN gene and the development of CME in patients with Werner syndrome.