Axenfeld-Rieger症候群の臨床像

Clinical features of Axenfeld-Rieger syndrome

　1982年から14年間に当科でAxenfeld-Rieger症候群と診断された19例を検討した。男性8例、女性11例，年齢は生後1か月〜41歳（平均15.2歳），両眼性15例，片眼性4例で，虹彩実質低形成が5例9眼にあった。家族内発生は4家系9例あり，他の1例では同一家系内に強角膜症があった。合併眼異常は，強角膜症3例6眼，発育異常緑内障3例5眼，瞳孔膜遺残2例4眼，小眼球2例3眼，後部胎生環および定型的虹彩欠損が各1眼であった。合併全身異常は，歯牙異常8例，顔面形成異常5例，Alagille症候群3例であった。合併した眼および全身異常は，すべて神経堤細胞の発生異常であり，本症候群では神経堤細胞由来の全身異常を検索することが重要である。

We reviewed 19 cases of Axenfeld-Rieger syndrome during the foregoing 14 years. The series comprised 8 males and 11 females. The ages ranged from 1 month to 41 years, average 15.2 years. The condition was bilateral in 15 cases and unilateral in 4. There were 4 pedigrees involving 9 cases. In another case, sclerocornea was present in one member of the same pedigree. The associated ocular disorders included hypoplasia of iris stroma in 9 eyes of 5 cases, sclerocornea in 6 eyes of 3 cases, developmental glaucoma in 5 eyes of 3 cases, persistent pupillary membrane in 4 eyes of 2 cases, microphthalmos in 3 eyes of 2 cases, and one eye each of posterior embryotoxon and typical iris coloboma. Systemic anomalies included dental anomalies in 8 cases, facial anomalies in 5 cases and Alagille syndrome in 3 cases. All the associated ocular and systemic anomalies arose from maldevelopment of the neural crest cells.