Baker R H, Heinemann M H, Miller H H, DeCosse J J
Departments of Ophthalmology, Cornell University Medical College, New York.
Am J Med Genet. 1988 Oct;31(2):427-35. doi: 10.1002/ajmg.1320310223.
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 association 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.
对56例经证实的家族性腺瘤性息肉病（FAP）患者进行眼科检查，以筛查视网膜色素上皮的色素沉着缺陷。29例患者（52%）双侧出现此类病变，8例患者（14%）单侧出现。56例患者中，33例有一项或多项与加德纳综合征相关的结肠外表现。我们在8例无任何加德纳综合征表现的患者中发现了视网膜病变。将这些患者与无任何加德纳综合征体征的患者相比，未发现加德纳综合征与视网膜病变之间存在关联；当将每种表现单独与色素性视网膜病变的存在进行比较时，也未发现任何显著关联。眼部检查结果的有无在家族中呈聚集性。与性别无关。眼底病变显然是FAP基因的一种可变表现，并非与加德纳综合征特异性相关。
