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

[werner syndrome]

To 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 .A 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 , Mut 4 and Mut 11 , 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 MÃ¼ller cells in the inner nuclear layer and outer nuclear layer .Patients 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 .

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werner syndrome

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