Polkinghorne P J, Ritchie S, Neale K, Schoeppner G, Thomson J P, Jay B S
Department of Clinical Ophthalmology, Moorfields Eye Hospital, London.
Eye (Lond). 1990;4 ( Pt 1):216-21. doi: 10.1038/eye.1990.29.
Bilateral pigmented fundus lesions were found in 65 out of 72 patients with familial adenomatous polyposis, an additional five patients having unilateral lesions. With a family history of familial adenomatous polyposis, the occurrence of multiple bilateral fundus lesions indicates the presence of the abnormal gene, as does the occurrence of oval pigmented lesions with surrounding pale haloes. The absence of pigmented fundus lesions does not exclude the abnormal genotype, while the presence of occasional pigmented spots can be found in an appreciable percentage of the population. Ocular examination would, however, appear to be valuable in screening those at risk, with a positive yield in most carriers of the gene for familial adenomatous polyposis.
在72例家族性腺瘤性息肉病患者中，65例发现双侧眼底色素沉着病变，另有5例有单侧病变。有家族性腺瘤性息肉病家族史的情况下，多发双侧眼底病变的出现表明存在异常基因，伴有周围淡色晕圈的椭圆形色素沉着病变的出现也是如此。眼底无色素沉着病变并不排除异常基因型，而在相当比例的人群中可发现偶尔的色素沉着斑点。然而，眼部检查在筛查有风险者方面似乎很有价值，对大多数家族性腺瘤性息肉病基因携带者有阳性检出率。
