大腸腺腫症に合併する網膜色素上皮肥大

Hypertrophy of the retinal pigment epithelium associated with familial polyposis of the colon

　家族性大腸腺腫症（ポリポージス）は大腸に多数の腺腫ができる疾患で，これに軟部腫瘍等を合併するものをGardner症候群という．1980年にBlairらがGardner症候群に網膜色素上皮肥大を合併することを初めて報告した．我々は家族性大腸腺腫症19例について眼科的精査を行い，内9例に彼らと同様の色素上皮肥大と思われる色素斑を認めた．

We made an ophthalmoscopic study of 19 patients with familial polyposis of the colon. We could observe pigmented fundus lesions in 9 patients. The condition was bilateral in 5 patients and unilateral in 4. The lesions were usually small, less than one-fifth disc diameter. They were roundand appeared as black or brown pigmented patches located in the midperipheral to peripheral fundus. The funduscopic findings were identical with con-genital hypertrophy of the retinal pigment epith-elium (CHRPE) as reported by Blair and Trempe in 1980. It appeared that CHRPE is one of the characteristic manifestations of Gardner's syn-drome which has been defined as association of intestinal polyposis, osteomas and tumors in vari-ous soft tissues.

Rinsho Ganka (Jpn J Clin Ophthalmol) 42(5) : 465-468, 1988