导致与斯蒂克勒综合征相关的小儿黄斑脉络膜视网膜萎缩的突变
Mutation Causing Pediatric Macular Chorioretinal Atrophy Associated With Stickler Syndrome.
作者信息
Shah Serena, Lopez-Font Francisco, Fan Jason, da Cruz Natasha Ferreira Santos, Staropoli Patrick, Negron Catherin, Berrocal Audina M
机构信息
Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA.
出版信息
J Vitreoretin Dis. 2024 Dec 31:24741264241309682. doi: 10.1177/24741264241309682.
To report a case of macular chorioretinal atrophy associated with Stickler syndrome in a pediatric patient with a genetically confirmed mutation. A single case was evaluated. A 3-year-old girl was found to have macular chorioretinal atrophy in the right eye and a retinal detachment in the left eye. Optical coherence tomography (OCT) showed macular chorioretinal atrophy and retinal thinning in the right eye. Macular chorioretinal atrophy can occur in Stickler syndrome. OCT imaging can be an important tool to characterize and differentiate these lesions from infectious or degenerative processes. These macular findings in collagen disorders can affect vision, making disease identification essential for early diagnosis and management.
报告一例经基因确诊存在突变的小儿患者患有的与Stickler综合征相关的黄斑脉络膜视网膜萎缩。对单一病例进行了评估。一名3岁女孩被发现右眼患有黄斑脉络膜视网膜萎缩，左眼患有视网膜脱离。光学相干断层扫描（OCT）显示右眼存在黄斑脉络膜视网膜萎缩和视网膜变薄。黄斑脉络膜视网膜萎缩可发生于Stickler综合征。OCT成像可成为将这些病变与感染性或退行性病变进行特征描述和鉴别的重要工具。这些胶原病中的黄斑表现可影响视力，因此疾病识别对于早期诊断和管理至关重要。
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