Traboulsi E I, Krush A J, Gardner E J, Booker S V, Offerhaus G J, Yardley J H, Hamilton S R, Luk G D, Giardiello F M, Welsh S B
N Engl J Med. 1987 Mar 12;316(11):661-7. doi: 10.1056/NEJM198703123161104.
We examined 134 members of 16 families with Gardner's syndrome for pigmented ocular fundus lesions. Of 41 patients with documented Gardner's syndrome, 37 (90.2 percent) had such lesions. The lesions were bilateral in 32 of the patients (78.1 percent) and in 2 of 42 controls (4.8 percent). Twenty (46.5 percent) of 43 first-degree relatives at 50 percent risk for Gardner's syndrome had bilateral pigmented fundus lesions, indicating that they had probably inherited the abnormal gene. The presence of bilateral lesions, multiple lesions (more than four), or both appeared to be a specific (specificity, 0.952) and sensitive (sensitivity, 0.780) clinical marker for Gardner's syndrome. The lesions are probably congenital; they were observed in a three-month-old baby at risk. The multiplicity of the pigmented fundus lesions and their association with diffuse disturbances of the retinal pigment epithelium in the same eye suggest a widespread expression of the abnormal gene in the retinal pigment epithelial cells.
我们对16个患有加德纳综合征的家族中的134名成员进行了眼底色素沉着病变检查。在41例确诊为加德纳综合征的患者中，37例（90.2%）有此类病变。这些病变在32例患者（78.1%）中为双侧性，而在42名对照者中有2例（4.8%）为双侧性。43名有50%患加德纳综合征风险的一级亲属中，20例（46.5%）有双侧眼底色素沉着病变，这表明他们可能遗传了异常基因。双侧病变、多发病变（超过4个）或两者皆有的情况似乎是加德纳综合征的一种特异性（特异性为0.952）和敏感性（敏感性为0.780）临床标志物。这些病变可能是先天性的；在一名有患病风险的3个月大婴儿中观察到了这些病变。眼底色素沉着病变的多发性及其与同一只眼中视网膜色素上皮弥漫性紊乱的关联表明，异常基因在视网膜色素上皮细胞中广泛表达。
