Bernard and Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, Columbia University College of Physicians and Surgeons, New York, New York, USA.
Retina. 2010 Sep;30(8):1217-22. doi: 10.1097/IAE.0b013e3181cea5a5.
The purpose of this study was to describe the findings of fundus autofluores-cence (FAF) and optical coherence tomography in a series of patients with congenital grouped albinotic spots.
Three eyes of three patients with congenital grouped albinotic spots were evaluated with FAF and optical coherence tomography imaging to evaluate the nature of the albinotic spots.
In all three eyes with congenital grouped albinotic spots, FAF imaging showed autofluorescent spots corresponding to the albinotic spots seen on stereo biomicroscopy. One eye also had additional spots detected on FAF imaging that were not visible on stereo biomicroscopy or color fundus photographs. Fundus autofluorescence imaging of the spots showed decreased general autofluorescence and decreased peripheral autofluorescence surrounding central areas of retained or increased autofluorescence. Optical coherence tomography showed a disruption in signal from the hyperreflective layer corresponding to the inner and outer segment junction and increased signal backscattering from the choroid in the area of the spots. Fluorescein angiography showed early and stable hyperfluorescence of the spots without leakage.
In this case series, FAF showed decreased autofluorescence of the spots consistent with focal retinal pigment epithelium atrophy or abnormal material blocking normal autofluorescence and areas of increased autofluorescence suggesting retinal pigment epithelium dysfunction. The findings of optical coherence tomography and fluorescein angiography suggest photoreceptor and retinal pigment epithelium layer abnormalities. Fundus autofluorescence and optical coherence tomography are useful noninvasive diagnostic adjuncts that can aid in the diagnosis of congenital grouped albinotic spots, help determine extent of disease, and contribute to our understanding of its pathophysiology.
本研究旨在描述一组先天性聚集性白化病斑点患者的眼底自发荧光（FAF）和光相干断层扫描（OCT）的结果。
对 3 例先天性聚集性白化病斑点患者的 3 只眼进行 FAF 和 OCT 成像评估，以评估白化病斑点的性质。
在所有 3 只先天性聚集性白化病斑点眼中，FAF 成像显示与立体生物显微镜下所见的白化病斑点相对应的自发荧光斑点。一只眼还在 FAF 成像上检测到了一些额外的斑点，这些斑点在立体生物显微镜或彩色眼底照片上不可见。斑点的眼底自发荧光成像显示总体自发荧光减少，中央区域保留或增加的自发荧光周围的周边自发荧光减少。OCT 显示与内外节交界处相对应的高反射层的信号中断，以及斑点区域脉络膜的信号后散射增加。荧光素血管造影显示斑点的早期和稳定的高荧光，无渗漏。
在本病例系列中，FAF 显示斑点的自发荧光减少，与局灶性视网膜色素上皮萎缩或异常物质阻断正常自发荧光一致，并且有增加的自发荧光区域提示视网膜色素上皮功能障碍。OCT 和荧光素血管造影的发现提示光感受器和视网膜色素上皮层异常。眼底自发荧光和光相干断层扫描是有用的非侵入性诊断辅助手段，可帮助诊断先天性聚集性白化病斑点，有助于确定疾病的范围，并有助于我们了解其病理生理学。
