Tiret A, Taiel-Sartral M, Tiret E, Laroche L
Hôpital Saint Antoine, Service d'Ophtalmologie, Paris, France.
Br J Ophthalmol. 1997 Sep;81(9):755-8. doi: 10.1136/bjo.81.9.755.
Multiple, bilateral lesions of congenital hypertrophy of the retinal pigment epithelium (CHRPE) have been described in patients suffering from familial adenomatous polyposis (FAP) since 1980. This study aimed to determine a reliable diagnostic criterion, based on the size and number of retinal CHRPE lesions, allowing the screening of patient carriers of the gene responsible for FAP.
32 control subjects and 144 patients belonging to 85 FAP families were studied, divided into 124 carriers of the genetic alteration and 20 non-carriers.
In carriers of the deleted gene, multiple, bilateral retinal lesions were consistently observed. Lesion situation, size, shape, and degree of pigmentation were variable however. A positive criterion for FAP was defined as the presence of at least four lesions whatever their size, or at least two lesions one of which is large. This criterion showed a high sensitivity (0.68) and a maximal specificity (1). Within each family, the retinal phenotypic expression was homogeneous. CHRPE lesions were observed in two thirds of the FAP families and absent from the remaining third.
By using this new positive diagnostic criterion, fundus examination allows early detection of those children carrying the gene responsible for FAP in families positive at ocular examination.
自1980年以来，在患有家族性腺瘤性息肉病（FAP）的患者中已描述了视网膜色素上皮先天性肥大（CHRPE）的多发性双侧病变。本研究旨在基于视网膜CHRPE病变的大小和数量确定可靠的诊断标准，以便筛查FAP致病基因的患者携带者。
对32名对照受试者和来自85个FAP家族的144名患者进行了研究，分为124名基因改变携带者和20名非携带者。
在缺失基因的携带者中，始终观察到多发性双侧视网膜病变。然而，病变的位置、大小、形状和色素沉着程度各不相同。FAP的阳性标准定义为无论大小至少有四个病变，或至少有两个病变，其中一个较大。该标准显示出高敏感性（0.68）和最大特异性（1）。在每个家族中，视网膜表型表达是一致的。在三分之二的FAP家族中观察到CHRPE病变，其余三分之一未观察到。
通过使用这一新的阳性诊断标准，眼底检查可以在眼科检查呈阳性的家族中早期发现携带FAP致病基因的儿童。
