Shields J A, Shields C L, Shah P G, Pastore D J, Imperiale S M
Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA 19107.
Ophthalmology. 1992 Nov;99(11):1709-13. doi: 10.1016/s0161-6420(92)31736-1.
It has been recently documented that multiple bilateral pigmented lesions at the level of the retinal pigment epithelium may be an indicator of patients with familial adenomatous polyposis who are prone to develop intestinal cancer, particularly if there is a positive family history of these intestinal disorders. Although atypical, such lesions have been called congenital hypertrophy of the retinal pigment epithelium (CHRPE). This study was undertaken to determine whether the typical lesions of CHRPE, seen frequently by ophthalmologists, also were indicators of familial adenomatous polyposis.
Review of charts and follow-up studies were performed on all patients diagnosed and coded as having solitary CHRPE or its multifocal variant (congenital grouped pigmentation; bear tracks). Patients and their physicians were contacted by telephone to complete a detailed questionnaire designed to detect signs or symptoms of familial adenomatous polyposis or Gardner syndrome among these patients with CHRPE and their relatives.
Of the 132 patients with previously diagnosed CHRPE, there were none with familial adenomatous polyposis, Gardner syndrome, or intestinal cancer, and only one patient had a history of intestinal polyps. Among more than 2000 of their blood relatives, only 20 had intestinal polyposis or colonic cancer (1%). This is much lower than would be expected from a survey of patients with the typical fundus lesions seen with familial adenomatous polyposis.
It appears that solitary CHRPE and congenital grouped pigmentation differ clinically from the multiple pigmented lesions seen with familial adenomatous polyposis and that patients with these conditions, as well as their relatives, are not at a greater risk of developing intestinal cancer.
最近有文献记载，视网膜色素上皮层的多个双侧色素性病变可能是家族性腺瘤性息肉病患者易患肠癌的一个指标，尤其是在有这些肠道疾病家族史阳性的情况下。尽管不典型，但此类病变被称为视网膜色素上皮先天性肥大（CHRPE）。本研究旨在确定眼科医生经常见到的CHRPE典型病变是否也是家族性腺瘤性息肉病的指标。
对所有诊断为并编码为患有孤立性CHRPE或其多灶性变体（先天性聚集性色素沉着；熊迹）的患者进行病历回顾和随访研究。通过电话联系患者及其医生，以完成一份详细问卷，旨在检测这些患有CHRPE的患者及其亲属中家族性腺瘤性息肉病或加德纳综合征的体征或症状。
在132例先前诊断为CHRPE的患者中，没有家族性腺瘤性息肉病、加德纳综合征或肠癌患者，只有1例患者有肠道息肉病史。在他们2000多名血亲中，只有20人患有肠道息肉或结肠癌（1%）。这远低于对患有家族性腺瘤性息肉病典型眼底病变患者进行调查所预期的比例。
孤立性CHRPE和先天性聚集性色素沉着在临床上似乎与家族性腺瘤性息肉病中所见的多个色素性病变不同，患有这些疾病的患者及其亲属患肠癌的风险并不更高。
