CHARGE associationの6例

Six cases of CHARGE association

　先天性ぶどう膜欠損35例中，CHARGEassociationと診断された6例について報告した。脈絡膜欠損は，両眼に存在したものが4例，片眼だけのものが2例あり，虹彩欠損は1例のみであった。合併したぶどう膜欠損以外の眼先天異常は，瞳孔膜遺残が2例，小眼球が1例，顔面神経麻痺による兎眼が1例であった。合併する全身奇形は耳介奇形，成長発育遅延，精神運動発達遅滞が多く，後鼻孔閉鎖は1例のみにみられた。6例中4例に家族検査を施行したが，4例とも孤発例と思われた。CHARGE associationの頻度は予想以上に多く，また後鼻孔閉鎖や心疾患などは生命予後と密接な関係があるため，この疾患の存在に留意することが眼科医にとって必要である。

From a review of 35 patients with congenital uveal coloboma, we identified 6 cases satisfying the criteria of CHARGE association. Coloboma of the choroid was bilateral in 4 and unilateral in 2.

Coloboma of the iris was present in 1 and was unilateral. Persistent pupillary membrane was pres-ent in 2 cases and lagophthalmos due to unilateral facial palsy in 1.

The present 6 cases manifested, frequently, retarded growth, retarded development, anomaliesof the central nervous system and the ear with or without deafness. Choanal atresia was present in one case only.

Chromosomal analysis showed normal karyotype in all the cases. There were no signs of CHARGEamong 12 members of families of 4 affected cases. The findings suggest that CHARGE association is a sporadic disorder. These also suggest that this condition is not a rare occurrence.