A Unique Presentation of Grouped Congenital Hypertrophy of the Retinal Pigment Epithelium
A Unique Presentation of Grouped Congenital Hypertrophy of the Retinal Pigment Epithelium
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DOI：
10.3109/13816810.2011.562956
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发表时间：
2011-09-01
影响因子：
1.2
通讯作者：
Singh, Arun D.
中科院分区：
文献类型：
--
作者：
Turell, Mary E.;Leonardy, Nicholas J.;Singh, Arun D.
目的：描述成组先天性视网膜色素上皮肥大（CHRPE）的独特表现，并回顾区分成组CHRPE与家族性癌症综合征相关的眼底色素病变（pofl）的临床特征。方法：报告1例病例。结果：一名28岁无症状的白人女性在双眼眼底扩张检查时表现为多个小的、扁平的、深棕色到黑色的视网膜色素上皮（RPE）团簇肥大。这些斑块样病变沿外周眼底呈周向分布，并伴有向后极方向的较小的色素沉着灶。外观符合分组色素型CHRPE。一个独特的，共存的特征是存在非色素，点状病变位于黄斑提示分组非色素CHRPE。荧光素血管造影显示持续的低荧光与临床观察到的色素沉着和色素沉着相关。结论：在同一个体合并成组的CHRPE中同时出现色素沉着和非色素沉着病变是罕见的。将分组的CHRPE病变与与家族性癌症综合征相关的pofl区分开来是很重要的。
Purpose: To describe a unique presentation of grouped congenital hypertrophy of the retinal pigment epithelium (CHRPE) and to review the clinical features which differentiate grouped CHRPE from the pigmented ocular fundus lesions (POFLs) associated with familial cancer syndromes.Methods: Report of a case.Results: A 28-year-old asymptomatic, Caucasian female demonstrated multiple small, flat, dark brown to black clusters of retinal pigment epithelium (RPE) hypertrophy on dilated fundus examination of both eyes. These plaque-like lesions were circumferential along the peripheral fundus and were associated with smaller foci of pigmentation oriented towards the posterior pole. The appearance was consistent with grouped pigmented CHRPE. A unique, co-existing feature was the presence of non-pigmented, punctate lesions located within the maculae suggestive of grouped non-pigmented CHRPE. Fluorescein angiography demonstrated persistent hypofluorescence correlating with the clinically observed areas of hyperpigmentation and hypopigmentation.Conclusions: The combination of both pigmented and non-pigmented lesions occurring in the same individual with grouped CHRPE is rare. It is important to distinguish grouped CHRPE lesions from the POFLs associated with familial cancer syndromes.