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Abstract：
A literature review and case presentation are used to discuss the diagnostic value of spectral domain optical coherence tomography (SD-OCT) in the assessment and management of congenital achromatopsia. A 24-year-old Hispanic man presented to the clinic with a longstanding history of decreased vision and associated possible recent progression. A comprehensive eye examination and a battery of tests including SD-OCT, fundus photography, electroretinogram (ERG) and Farnsworth D-15 were completed. SD-OCT and photopic ERG confirmed the clinical diagnosis of congenital achromatopsia. There was the classic subfoveal flattened hyporeflective \'punched out\' zone, resulting from an absence of inner segment/outer segment junction. SD-OCT findings associated with congenital achromatopsia have been documented recently, helping in the diagnosis of the condition. The SD-OCT findings have further expanded our knowledge of congenital achromatopsia, while also aiding in the management of the disease.
摘要：
通过文献回顾和病例介绍，讨论了谱域光学相干断层扫描（SD-OCT）在先天性全色盲评估和治疗中的诊断价值。一名24岁的西班牙裔男子出现在诊所，他有长期的视力下降史和相关的近期进展。全面的眼睛检查和一系列测试，包括SD-OCT，眼底摄影,完成视网膜电图(ERG)和FarnsworthD-15.SD-OCT和明视ERG证实了先天性全色盲的临床诊断。有一个经典的凹下平坦的低反射区，由于缺乏内段/外段连接。与先天性色盲相关的SD-OCT发现最近已被记录，帮助诊断病情。SD-OCT的发现进一步扩大了我们对先天性色盲的认识，同时也有助于疾病的管理。
