戈德曼-法夫尔综合征中类Coats性渗出性玻璃体视网膜病变的多模式治疗
Multimodal treatment of Coats-like exudative vitreoretinopathy in Goldmann-Favre syndrome.
作者信息
Nieves Fabiola Ramos, Villegas Victor M, Patel Nimesh A, Berrocal Audina M, Murray Timothy G
机构信息
Department of Ophthalmology, University of Puerto Rico School of Medicine, University of Puerto Rico, Medical Sciences Campus, PO BOX 365067, San Juan, PR, 00936-5067, USA.
Bascom Palmer Eye Institute, University of Miami, Miami, FL, USA.
出版信息
Am J Ophthalmol Case Rep. 2022 Jan 29;25:101362. doi: 10.1016/j.ajoc.2022.101362. eCollection 2022 Mar.
PURPOSE
To report a Coats-like exudative vitreoretinopathy in Goldmann-Favre syndrome.
OBSERVATIONS
A 64 year-old woman with prior diagnosis of retinal dystrophy presented with decreased vision in the right eye (OD). Ophthalmologic examination was remarkable for bilateral arteriolar attenuation, mid-peripheral bony-spicules, and waxy disc pallor. Coats-like exudative vitreoretinopathy and cystoid macular edema were present OD. Genetic testing showed a homozygous pathogenic mutation in gene , variant c.932G>A (p.Arg311Gln), consistent with Goldmann-Favre syndrome. Targeted laser ablation and combination intravitreal therapy were effective in decreasing macular edema.
CONCLUSIONS AND IMPORTANCE
A Coats-like exudative vitreoretinopathy may occur in the setting of Goldmann-Favre syndrome. Targeted laser ablation in combination with intravitreal therapy can be efficacious in select patients.
目的
报告戈德曼-法夫尔综合征中类似科茨病的渗出性玻璃体视网膜病变。
观察结果
一名先前诊断为视网膜营养不良的64岁女性右眼视力下降。眼科检查显示双侧小动脉变细、中周边骨细胞样色素沉着和蜡样视盘苍白。右眼存在类似科茨病的渗出性玻璃体视网膜病变和黄斑囊样水肿。基因检测显示基因存在纯合致病性突变，变异体为c.932G>A（p.Arg311Gln），符合戈德曼-法夫尔综合征。靶向激光消融和玻璃体腔内联合治疗在减轻黄斑水肿方面有效。
结论与意义
戈德曼-法夫尔综合征可能出现类似科茨病的渗出性玻璃体视网膜病变。靶向激光消融联合玻璃体腔内治疗对部分患者可能有效。
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