School of Optometry, University of Waterloo, Ontario, Canada.
Cont Lens Anterior Eye. 2010 Feb;33(1):33-40. doi: 10.1016/j.clae.2009.09.005. Epub 2009 Nov 28.
This case report examines the clinical characteristics of hereditary granular dystrophy through the use of slit lamp digital photography, confocal microscopy (CM) and optical coherence tomography (OCT). A review of the literature describing the histopathological and genetic associations of stromal dystrophies, suggest it may be possible to differentiate dystrophies based on their clinical manifestations, and appearances of CM and OCT images, with or without the use of genetic testing.
Two sisters, previously diagnosed with Granular (Groenouw I) Dystrophy, were examined. Examination included the use of digital slit lamp photography, CM and OCT imaging.
"Breadcrumb" opacities were visualized in the anterior two-thirds of the stroma with all three imaging techniques. Opacities were demonstrated in the posterior third of the stroma with the digital photography and OCT techniques.
The digital photography, CM and OCT images support the sister's diagnosis of Granular (Groenouw I) Dystrophy. Currently, genetic and histopathological testing are the only techniques available to determine exactly which corneal dystrophy and gene mutation are present. The results of this case report demonstrate that slit lamp digital photography, combined with CM and OCT may be capable of providing sufficient diagnostic information to diagnose corneal granular dystrophies in a clinical setting.
本病例报告通过使用裂隙灯数字摄影、共焦显微镜 (CM) 和光相干断层扫描 (OCT) 检查遗传性颗粒状营养不良的临床特征。对描述基质营养不良的组织病理学和遗传相关性的文献进行回顾表明，可能可以根据临床表现以及 CM 和 OCT 图像的外观，在有或没有遗传测试的情况下对营养不良进行区分。
对两位被诊断为颗粒状（Groenouw I）营养不良的姐妹进行了检查。检查包括使用数字裂隙灯摄影、CM 和 OCT 成像。
所有三种成像技术均在前基质的前三分之二处观察到“面包屑”混浊。数字摄影和 OCT 技术显示后基质的混浊。
数字摄影、CM 和 OCT 图像支持姐妹的颗粒状（Groenouw I）营养不良诊断。目前，遗传和组织病理学测试是确定存在哪种角膜营养不良和基因突变的唯一可用技术。本病例报告的结果表明，裂隙灯数字摄影与 CM 和 OCT 相结合，可能能够在临床环境中提供足够的诊断信息来诊断角膜颗粒状营养不良。
