先天性ぶどう膜欠損の臨床的検討

Clinical features of congenital uveal coloboma

（19-D501-2）　先天性ぶどう膜欠損76例を検討した。定型的欠損は62例で，男性30例，女性32例であり，両眼性28例，片眼性30例，判定不能が4例であった。合併眼異常は小眼球22例26眼，瞳孔膜遺残17例26眼，後部胎生環14例19眼などであり，全身異常は耳介奇形，成長発育遅延，精神発達遅滞各18例，心奇形13例，性腺低形成12例，顔面神経麻痺10例などであった。非定型的欠損は14例あり，男性8例，女性6例，両眼性3例，片眼性11例であった。合併眼異常は小眼球5例8眼，瞳孔膜遺残5例6眼，乳頭周囲ぶどう腫3例5眼などで，全身異常はなかった。先天性ぶどう膜欠損には，神経堤細胞の発生異常が多く合併し，その成立には同細胞の異常が関与していると考える。

We reviewed 76 cases of congenital uveal coloboma comprising 62 typical and 14 atypical ones. The 62 typical cases included 30 males and 32 females. It was bilateral in 28 cases, unilateral in 30 and unclassified in 4 due to contralateral severe microphthalmia. Associated anomalies of typical coloboma included microphthalmos in 26 eyes of 22 cases, persistent pupillary membrane in 26 eyes of 17 cases, and posterior embryotoxon in 19 eyes of 14 cases. Accompanying systemic anomalies included 18 cases each of ear anomalies, retarded growth and retarded mental development, 13 of heart anomalies, 12 of genital hypoplasia and 10 of facial palsy. The 14 atypical cases comprised 8 males and 6 females. It was bilateral in 3 and unilateral in 11. Accompanying ocular anomalies included microphthalmos in 8 eyes of 5 cases, persistent pupillary membrane in 6 eyes of 5 cases, and peripapillary staphyloma in 5 eyes of 3 cases. There were no systemic anomalies associated with atypical coloboma. The majority of associated anomalies of both typical and atypical coloboma were due to maldevelopment of neural crest cells. The findings suggest that congenital uveal coloboma arises from a developmental disorder of neural crest cells.