Treatment of cystoid macular edema in homozygous twins with glutathione synthetase deficiency and retinal dystrophy

2018 ◽  
Vol 41 (2) ◽  
pp. 116-121
Author(s):  
O. Fakhoury ◽  
J. Conrath ◽  
B. Donnadieu ◽  
R. Warrak ◽  
F. Matonti
Blood ◽  
1983 ◽  
Vol 62 (4) ◽  
pp. 754-757 ◽  
Author(s):  
JT Prchal ◽  
WM Crist ◽  
M Roper ◽  
VP Wellner

Abstract The clinical and laboratory features of a 3-mo-old black male infant with glutathione (GSH) synthetase deficiency of the generalized type was evaluated. Partial albinism, brisk hemolytic anemia, recurrent febrile episodes, and mental retardation were noted. Also, severe recurrent metabolic acidosis and marked oxoprolinemia and oxoprolinuria were found in the proband but not in his first-degree relatives. The relationship of these disease manifestations to the underlying metabolic defect is discussed.


Author(s):  
David J. Timson ◽  
Richard J. Reece ◽  
James B. Thoden ◽  
Hazel M. Holden ◽  
Andrea L. Utz ◽  
...  

2015 ◽  
Vol 3 (3) ◽  
pp. 131-139 ◽  
Author(s):  
Noelia Bravo-Alcobendas ◽  
Joseba Zulueta ◽  
Elena Salobrar-García ◽  
Juan J Salazar ◽  
José M Ramírez

The purpose of this paper is to conduct a review of studies on cystoid macular edema published in the last seven years. Cystoid macular edema is a major cause of loss of visual acuity. It is the final common pathway of many diseases and can be caused by numerous processes including inflammatory, vascular, adverse drug reactions, retinal dystrophy or intraocular tumors. These processes disrupt the blood-retinal barrier, with fluid extravasation to the macular parenchyma. Imaging tests are essential for both detection and monitoring of this pathology. Fluorescein angiography and autofluorescence show the leakage of liquid from perifoveal vessels into the tissue where it forms cystic spaces. Optical coherence tomography is currently the gold standard technique for diagnosis and monitoring. This allows objective measurement of retinal thickness, which correlates with visual acuity and provides more complete morphological information. Based on the underlying etiology, the therapeutic approach can be either surgical or medical with anti-inflammatory drugs. We found that disruption of the blood-retinal barrier for various reasons is the key point in the pathogenesis of cystoid macular edema, therefore we believe that studies on its treatment should proceed on this path.


2003 ◽  
Vol 22 (6) ◽  
pp. 497-497 ◽  
Author(s):  
Runa Njålsson ◽  
Katarina Carlsson ◽  
Andreas Winkler ◽  
Agne Larsson ◽  
Svante Norgren

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