Shields J A, Tso M O
Arch Ophthalmol. 1975 Nov;93(11):1153. doi: 10.1001/archopht.1975.01010020861007.
Gross examination of an eye removed at autopsy from a 4-year-old child with congenital heart disease revealed typical grouped pigmentation of the retina. Routine light microscopy and flat preparation of the retinal pigment epithelium demonstrated the lesions to consist of focal areas of increased concentration of pigment granules in otherwise normal retinal pigment epithelial cells. The pigment granules were large and football shaped. The overlying photoreceptors showed no abnormalities, possibly explaining the clinical features of normal visual acuity and visual fields in this patient. We believe that this is the first histologic description of congenital grouped pigmentation reported in the English literature. A differential diagnosis and brief review of the pertinent literature are also presented.
对一名患有先天性心脏病的4岁儿童尸检摘除的眼睛进行大体检查，发现视网膜有典型的色素沉着群。视网膜色素上皮的常规光学显微镜检查和平片标本显示，病变由正常视网膜色素上皮细胞中色素颗粒浓度增加的局灶性区域组成。色素颗粒大且呈橄榄球状。上方的光感受器未显示异常，这可能解释了该患者视力和视野正常的临床特征。我们认为这是英文文献中首次对先天性色素沉着群进行的组织学描述。本文还给出了鉴别诊断及相关文献的简要综述。
