Gelisken O, Yücel A, Güler K, Zorluoglu A
Ophthalmology Dept., Uludag University, Faculty of Medicine, Bursa, Turkey.
Int Ophthalmol. 1997;21(4):205-8. doi: 10.1023/a:1005957406770.
Retinal pigment epithelium (RPE) lesions are predictive congenital phenotypic markers for familial adenomatous polyposis (FAP). This prospective screening study aims at assessing the incidence and significance of these lesions in FAP patients and their family members.
Sixty-two members from three families including five patients with the diagnosis of FAP have been ophthalmologically surveyed. All RPE lesions were documented with fundus photography and fluorescein angiography was performed in 13 subjects. Sigmoidoscopy and/or radiological examination were performed annually in 9 family members with typical RPE lesions during 4 years to allow early diagnosis of FAP.
Typical RPE lesions were present in five FAP patients and 15 family members. Telangiectatic dilatations in the retinal periphery with small dot-like hemorrhages were detected in 6 subjects from 3 families These lesions were particularly evident on fluorescein angiography. Annual colon analysis showed polyps in 3 out of 9 subjects who were positive for RPE lesions.
RPE lesions are valuable as a clinical marker in predicting FAP. The co-existing peripheral vascular alterations which have not been reported before, are probably related to FAP.
视网膜色素上皮（RPE）病变是家族性腺瘤性息肉病（FAP）的先天性预测表型标志物。这项前瞻性筛查研究旨在评估这些病变在FAP患者及其家庭成员中的发生率和意义。
对来自三个家庭的62名成员进行了眼科检查，其中包括5名确诊为FAP的患者。所有RPE病变均通过眼底照相记录，并对13名受试者进行了荧光素血管造影。在4年期间，对9名有典型RPE病变的家庭成员每年进行乙状结肠镜检查和/或放射学检查，以便早期诊断FAP。
5名FAP患者和15名家庭成员存在典型RPE病变。在来自3个家庭的6名受试者中检测到视网膜周边的毛细血管扩张伴小点状出血。这些病变在荧光素血管造影上尤为明显。每年的结肠分析显示，9名RPE病变阳性的受试者中有3人发现息肉。
RPE病变作为预测FAP的临床标志物具有重要价值。此前未报道过的并存的周边血管改变可能与FAP有关。
