結節性硬化症における非定型的網脈絡膜欠損

A unique retinochoroidal coloboma in tuberous sclerosis

　結節性硬化症86例（172眼）の臨床像を検討し，8例（9.3％）の片眼眼底にpunched-out Iesionを認めた。5例に螢光眼底撮影を施行し，網膜色素上皮の低形成，脈絡膜大血管層の残存を認め，1例に病変内網膜小嚢腫状変性を認めた。これらの限局性小病変は，神経外胚葉の分化と移動の異常に伴う先天異常と考えられ，皮膚白斑，虹彩脱色素斑と共通の機序が推察され，疾患像の側面を特徴づける眼科的所見の一つである。

Out of a consecutive series of 86 cases with tuber-ous sclerosis (Bourneville-Pringle), 8 cases mani-fested a unique, punched-out fundus lesion. This condition was usually unilateral, round or oval in shape, and was maximally 2 DD in diameter. These areas showed hypoplasia of the retinal pigment epithelium, residual choroidal vessels running through them and, occasionally, microcystoid de-generation of the retina.