Rasquin F, Van Nechel C, Cordonnier M
Department of Ophthalmology, Erasme University Hospital, Université Libre de Bruxelles, Belgium.
Bull Soc Belge Ophtalmol. 2009(313):9-12.
To document for the first time intrinsic retinal pigment epithelium (RPE) fluorescence in occult macular dystrophy (OMD). This entity is characterized by a central cone dysfunction leading to a decline of visual acuity without visible fundus and fluorescein angiography abnormalities. A great variability in clinical findings and in the pattern of inheritance have been reported suggesting probably several etiologies of which some are well known but seen too early to detect significant changes.
Fundus autofluorescence imaging is a recent method to detect early retinal pigment epithelial alterations. It may visualise disease specific abnormalities in the retinal pigment epithelium often not yet visible on ophthalmoscopy such as Stargardt disease, rod-cone dystrophy. This method was applied in a member of a family with OMD.
The normal fundus autofluorescence observed in our patient allowed the distinction between well-known maculopathies not yet visible on ophthalmoscopy but showing abnormal autofluorescence, and genuine occult macular dystrophy.
Fundus autofluorescence imaging in our case of dominant autosomal OMD suggests a healthy and functional RPE. This examination of RPE should therefore be added to the work-up of suspected OMD.
首次记录隐匿性黄斑营养不良（OMD）中视网膜色素上皮（RPE）的固有荧光。该疾病的特征是中心视锥细胞功能障碍，导致视力下降，而眼底和荧光素血管造影无明显异常。据报道，临床发现和遗传模式存在很大差异，提示可能有多种病因，其中一些病因虽为人熟知，但因发现过早而无法检测到显著变化。
眼底自发荧光成像是检测早期视网膜色素上皮改变的一种新方法。它可以显示视网膜色素上皮中疾病特异性异常，这些异常在检眼镜检查中通常不可见，如Stargardt病、视杆-视锥营养不良。该方法应用于一个OMD家族的一名成员。
在我们的患者中观察到的正常眼底自发荧光，使得可以区分在检眼镜检查中尚未可见但显示异常自发荧光的已知黄斑病变和真正的隐匿性黄斑营养不良。
在我们的常染色体显性OMD病例中，眼底自发荧光成像提示RPE健康且功能正常。因此，对可疑OMD的检查应增加对RPE的这项检查。
