Olea J L, Mateos J M, Llompart A, Obrador A
Vitreo-retinal Section, Son Dureta Hospital, Palma de Mallorca, Spain.
Acta Ophthalmol Scand. 1996 Feb;74(1):48-50. doi: 10.1111/j.1600-0420.1996.tb00681.x.
Congenital hypertrophy of the retinal pigment epithelium is a recognized clinical marker in familial adenomatous polyposis as an expression of the altered gene in this autosomal dominant disease. Ocular lesions could be discovered years before the development of intestinal polyposis. We studied 29 diagnosed patients, 38 relatives (first degree) of familial adenomatous polyposis kindreds and 26 controls (general population). Number, size and bilaterality of pigmented lesions were analysed in order to separate members affected and non affected by intestinal polyposis in familial adenomatous polyposis kindreds. Three of 26 families (23%) had patients with polyposis and normal fundus. Bilaterality and more than 4 lesions improved specificity or sensibility of the fundus examination. However, the best efficacy of the test was obtained with large lesions (sensibility 0.82 and specificity 0.97).
先天性视网膜色素上皮肥大是家族性腺瘤性息肉病中一种公认的临床标志物，是这种常染色体显性疾病中基因改变的一种表现形式。眼部病变可在肠道息肉形成前数年被发现。我们研究了29例确诊患者、38名家族性腺瘤性息肉病家族的一级亲属以及26名对照者（普通人群）。分析色素沉着病变的数量、大小和双侧性，以便区分家族性腺瘤性息肉病家族中受肠道息肉病影响和未受影响的成员。26个家族中有3个（23%）的患者患有息肉病但眼底正常。双侧性和超过4个病变提高了眼底检查的特异性或敏感性。然而，该检查对大病变的效果最佳（敏感性0.82，特异性0.97）。
