[频域光学相干断层扫描在先天性全色盲诊断中的作用（6例患者）]
[SD-OCT contribution in congenital achromatopsia diagnosis (6 patients)].
作者信息
Largueche L, Chebil A, Bouladi M, Bouraoui R, Kort F, Charfi H, El Matri L
机构信息
Unité de recherche en oculo-génétique UR17/04, service d'ophtalmologie B, institut Hédi-Rais, boulevard 9-Avril, 1006 Tunis, Tunisie.
Unité de recherche en oculo-génétique UR17/04, service d'ophtalmologie B, institut Hédi-Rais, boulevard 9-Avril, 1006 Tunis, Tunisie.
出版信息
J Fr Ophtalmol. 2014 Apr;37(4):296-302. doi: 10.1016/j.jfo.2013.12.008. Epub 2014 Mar 18.
PURPOSE
Achromatopsia (ACH) is a congenital autosomal recessive cone disorder. The puspose is to describe particular SD-OCT macular images in ACH.
METHODS
The study included 6 patients from 3 consanguineous Tunisian families with congenital nystagmus and amblyopia with ACH. All patients had clinical examination with fundus photography, autofluorescence, 100-Hue Color vision and the appearance and thickness of all retinal layers were evaluated by spectral-domain optical coherence tomography (SD-OCT).
RESULTS
All patients had ACH. The feature was loss of inner- and outer-segments (IS/OS) with disruption of the ciliary layer on OCT and an appearance of partial-thickness hole in the outer macular retina.
CONCLUSION
This feature seems to be characteristic of ACH. SD-OCT correlated to clinic signs help the diagnosis.
目的
全色盲（ACH）是一种先天性常染色体隐性视锥细胞疾病。目的是描述ACH患者特定的频域光学相干断层扫描（SD-OCT）黄斑图像。
方法
该研究纳入了来自3个突尼斯近亲家庭的6例患有先天性眼球震颤和ACH相关弱视的患者。所有患者均接受了眼底照相、自发荧光、100色调色觉的临床检查，并通过频域光学相干断层扫描（SD-OCT）评估了所有视网膜层的外观和厚度。
结果
所有患者均患有ACH。其特征是在OCT上内段和外段（IS/OS）缺失，睫状层中断，黄斑外层视网膜出现部分厚度的裂孔。
结论
该特征似乎是ACH的特征性表现。与临床体征相关的SD-OCT有助于诊断。
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