一名患有戈德曼-法夫尔综合征患者的视网膜病理学表现。
Retinal pathology of a patient with Goldmann-Favre syndrome.
作者信息
Bonilha Vera L, Fishman Gerald A, Rayborn Mary E, Hollyfield Joe G
机构信息
The Cole Eye Institute, The Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA.
出版信息
Ophthalmic Genet. 2009 Dec;30(4):172-80. doi: 10.3109/13816810903176765.
PURPOSE
To define the retinal pathology in an 88-year-old male affected with Goldmann-Favre syndrome with a 2 bp 5' A>C splice site mutation in the NR2E3 gene.
METHODS
Retinal tissue from the macula and periphery was processed for immunohistochemistry. Perimacular retina was processed for transmission electron microscopy. Cryosections were studied by indirect immunofluorescence, using well-characterized antibodies to rhodopsin, cone cytoplasm, and cone opsins. The affected donor eye was compared to a postmortem matched normal eye.
RESULTS
The retina was highly disorganized without laminar organization. The RPE was discontinuous in some perimacular regions. Large (>1 mm) spherical electrondense melanosomes were observed in the RPE and choroid by TEM. Rods were virtually absent in the affected retina. Cones were present in the macula, but were mostly absent from the retinal periphery. In addition, cone rosettes were observed in the perimacular area. Both red/green and blue cone opsins were distributed along the entire cellular expanse of the cone photoreceptors in the affected eye, but were restricted to the cone outer segments in the control retina.
CONCLUSIONS
The histological data obtained from the retina of an elderly male patient with Goldmann-Favre syndrome showed an absence of rods and abnormal distribution of red/green and blue cone opsins.
目的
明确一名88岁患有戈德曼-法夫尔综合征的男性患者的视网膜病理学特征，该患者NR2E3基因存在一个2 bp的5' A>C剪接位点突变。
方法
对黄斑和周边视网膜组织进行免疫组织化学处理。对黄斑周围视网膜进行透射电子显微镜检查。使用针对视紫红质、视锥细胞质和视锥视蛋白的特异性抗体，通过间接免疫荧光对冰冻切片进行研究。将受影响的供体眼与死后匹配的正常眼进行比较。
结果
视网膜高度紊乱，无层次结构。在一些黄斑周围区域，视网膜色素上皮（RPE）不连续。通过透射电子显微镜在RPE和脉络膜中观察到大型（>1 mm）球形电子致密黑素体。在受影响的视网膜中几乎没有视杆细胞。视锥细胞存在于黄斑中，但在视网膜周边大多缺失。此外，在黄斑周围区域观察到视锥细胞玫瑰花结。在受影响的眼睛中，红/绿和蓝视锥视蛋白分布在视锥光感受器的整个细胞范围内，但在对照视网膜中仅限于视锥细胞外段。
结论
从一名患有戈德曼-法夫尔综合征的老年男性患者视网膜获得的组织学数据显示，视杆细胞缺失，红/绿和蓝视锥视蛋白分布异常。
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