Optical coherence tomography in Malattia Leventinese
Optical coherence tomography in Malattia Leventinese
复制标题
DOI：
10.1055/s-2005-857972
复制
发表时间：
2005-03-01
影响因子：
0.8
通讯作者：
Munier, FL
中科院分区：
文献类型：
--
作者：
Gaillard, MC;Wolfensberger, TJ;Munier, FL
背景：Leventinese Malattia （ML）是一种遗传同质黄斑营养不良与常染色体显性遗传模式。镜下可通过黄斑和乳头旁沉积物的放射状样样沉积物识别，称为Forni疣状物。本研究的目的是描述光学相干断层扫描（OCT）的结果，并将其与组织学数据进行比较。患者和方法：6例患者行眼科检查、血管造影和oct检查，通过R345W突变基因的遗传分析确诊。对ML供体眼进行组织病理学研究。结果：OCT表现为弥漫性rpe -绒毛膜-毛细血管增厚，黄斑及乳头旁呈结节状。这些突起远达外核层。结论：OCT是一种非侵入性技术，可提供与组织学切片相当的视网膜横切面图像。在ML中，OCT显示RPE-Bruch膜复合物弥漫性改变。黄斑和乳头旁结节性病变在断层扫描上相当于结节和福氏疣。
Background: Malattia Leventinese (ML) is a genetically homogeneous macular dystrophy with an autosomal dominant mode of inheritance. Ophthalmoscopically it is recognisable by a radial pattern of drusen-like deposits in the macula and by parapapillary deposits, named Forni's verrucosities. The aim of this study is to describe optical coherence tomographic (OCT) findings and to compare them with histological data. Patients and methods: Six patients underwent ophthalmological examination, angiography and OCT. Diagnosis was confirmed by genetic analysis of the R345W mutation. A histopathological study of an ML donor eye was performed. Results: OCT revealed a diffuse RPE-chorio-capillaris thickening with nodular features in the macular and parapapillary areas. The protrusions reached as far as the outer nuclear layer. Conclusions: OCT is a non-invasive technique that provides a cross-sectional picture of the retina comparable to a histological section. In ML, OCT revealed a diffuse alteration of the RPE-Bruch's membrane complex. The macular and parapapillary nodular lesions are the tomographic equivalents of drusen and Forni's verrucosities.