Milazzo S, Scard D, Mathieu M, Turut P
Clinique Ophtalmologique, Centre Hospitalier Universitaire, Centre Saint-Victor, Amiens.
J Fr Ophtalmol. 1993;16(12):651-6.
Gardner's syndrome is an adenomatous polyposis coli characterized by extracolonic manifestations such as congenital hypertrophy of retinal pigment epithelium. This inherited autosomal dominant disorder has a marked propensity to malignant transformation, so it is important to detect affected patients early. Ophthalmologic manifestations are simple, non invasive reliable and very sensitive. The gene responsible for this disorder was localized to the long arm of the fifth chromosome. The results of investigation in 3 families are reported herein and compared with the data of the literature.
加德纳综合征是一种以结肠外表现如视网膜色素上皮先天性肥大等为特征的腺瘤性息肉病。这种常染色体显性遗传性疾病有显著的恶变倾向，因此早期发现受影响的患者很重要。眼科表现简单、无创、可靠且非常敏感。导致这种疾病的基因定位于第五条染色体的长臂上。本文报告了对3个家族的调查结果，并与文献数据进行了比较。
