HYPERPIGMENTED LESIONS OF THE RETINAL-PIGMENT EPITHELIUM IN FAMILIAL ADENOMATOUS POLYPOSIS
HYPERPIGMENTED LESIONS OF THE RETINAL-PIGMENT EPITHELIUM IN FAMILIAL ADENOMATOUS POLYPOSIS
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DOI：
10.1002/ajmg.1320310223
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发表时间：
1988-10-01
期刊：
影响因子：
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通讯作者：
DECOSSE, JJ
中科院分区：
文献类型：
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作者：
BAKER, RH;HEINEMANN, MH;DECOSSE, JJ
对56例确诊为家族性腺瘤性息肉病（FAP）的视网膜色素上皮色素沉着缺陷患者进行眼科检查。29例患者（52%）双侧和8例患者（14%）单侧出现此类病变。在56例患者中，33例有一种或多种与Gardner综合征相关的结肠外表达。我们发现8例患者的视网膜病变没有任何加德纳综合征的表现。当这些患者与没有任何Gardner综合征的患者相比时，没有发现Gardner综合征和视网膜病变之间的关联，当每个表达单独与视网膜色素病变的存在进行比较时，也没有发现任何显著的关联。有或无眼睛的发现被认为是集群内的家庭。与性别无关。眼底病变显然是FAP基因的可变表达，与Gardner综合征无特异性相关。
Ophthalmic examinations were performed on 56 patients with validated familial adenomatous polyposis (FAP) for hyperpigmented defects of the retinal pigment epithelium. Such lesions were seen bilaterally in 29 patients (52%) and unilaterally in 8 patients (14%). Of the 56 patients, 33 had one or more of the extracolonic expressions associated with Gardner syndrome. We found retinal lesions in 8 patients without any of the expressions of Gardner syndrome. No assocation was found between Gardner syndrome and the retinal lesions when these patients were compared to patients without any stigmata of Gardner syndrome, nor was any significant association found when each of the expressions was compared individually with the presence of the pigmented retinal lesions. The presence or absence of eye findings were seen to cluster within families. There was no association with sex. Fundus lesions are apparently a variable expression of the FAP gene and are not specifically associated with Gardner syndrome.