Kabuki make-up症候群の眼科的所見

Ocular manifestations of Kabuki make-up syndrome

　Kabuki make-up症候群は，特異な顔貌，精神発達遅滞，低身長，特異な皮膚紋理異常，骨格異常，易感染性等を特徴とし，原因が未だ不明な先天奇形症候群である。

　我々は本症患児9例（男4例，女5例）の眼科的所見を検討し，次の知見を得た。

　1）比較的軽度の屈折異常が多い。

　2）斜視，特に内斜視の頻度が高い。

　3）2例に軽度白内障を認めた。

　4）特徴のひとつとされる青色強膜は認めなかった。

Kabuki make-up syndrome, as initially described by Niikawa et al. and Kuroki et al. in 1981, is characterized by peculiar physiognomy, mental retardation, postnatal dwarfism, abnormal der-matoglyphics, skeletal abnormalities and suscepti-bility to infection during infancy. The etiology is as yet unidentified.

We observed 9 patients of this syndrome about ocular manifestations. Their ages ranged from 8 to 17 years. The series included 4 males and 5 females. All the cases showed elongated palpebral fissures and ectropion of the outer lid margins as character-istic features of the syndrome. We observed a high incidence of mild refractive errors and strabismus, particularly esotropia, in the present series.