显性玻璃膜疣合并高度远视一家系

A pedigree of dominant drusen with high hypermetropia

目的观察显性玻璃膜疣合并高度远视一家系的临床表现。方法回顾分析来自同一家系的3例显性玻璃膜疣合并高度远视患者的临床资料。采用复方托品酰胺充分散大瞳孔后，在验光中心采用电脑验光和检影的方法确定患者的屈光状态。采用Zeiss公司FF450plus眼底照相机行眼底彩色照相及荧光素眼底血管造影（FFA）检查。同时行视网膜电图（ERG）检查，观察患者的ERG表现特征。结果散瞳验光结果显示，3例患者均存在不同程度的远视性屈光不正。除先证者母亲左眼矫正视力可达正常视力外，其余患眼均存在屈光不正性弱视。眼底彩色照相检查显示，3例患者均有不同程度的玻璃膜疣存在。先证者弟弟病变程度最轻；先证者母亲病变最为明显，除黄斑区外，周边部也存在大量散在的玻璃膜疣。FFA检查显示，相应于彩色眼底像中的玻璃膜疣处，均表现为透见荧光。ERG检查显示，先证者弟弟明视ERG振幅下降，暗视ERG正常。先证者及其母亲明视、暗视ERG均正常。结论显性玻璃膜疣合并高度远视患者可伴有屈光不正性弱视。相应于玻璃膜疣处，FFA表现为透见荧光。ERG表现除明视振幅可发生下降外，其余表现均正常。

Objectives To observe the clinical features of a pedigree of dominant drusen with high supermetropia. Methods Three patients in a family with dominant drusen were retrospectively reviewed. The refractive conditions were confirmed by computer and manual refraction examination with pupils dilated by tropicamide. Color fundus photography and fluorecein angiography were carried out with a FF450 Plus Zeiss camera. The fundus fluorescein angiography （FFA） photos were analyzed. Standard electroretinogram responses （ERGs） were also recorded. The characteristics of refractive condition, color fundus photos, FFA and ERG of the patients were analyzed. Results Various degrees of drusen were observed in the retinae of the three patients. The disease in the younger brother of the proband was mild and in the mother is severe. A large number of drusen existed in the peripheral retina as well as macula in the mother of the proband. FFA revealed window defects corresponding to the drusen. The dilated refractive results showed high supermetropic refractive error in the three patients. All of the eyes except the left eye of the mother of the proband showed refractive amblyopia. The amplitude of the photopic ERGs were decreased but the scotopic ERGs were normal in the younger brother of the proband. The scotopic and photopic ERGs of the proband and her mother were normal. Conclusion Patients with dominant drusen in combinnation with high hypermetropic refractive error and amblyopia may occur.