CHARGE症候群に合併した網膜剝離を硝子体手術で治療した1例

A case of CHARGE syndrome complicated with retinal detachment treated by vitrectomy

要約　目的：CHARGE症候群はコロボーマ，先天性心疾患，後鼻孔閉鎖，成長障害，外陰部低形成，耳奇形・難聴を主症状とする先天性形態異常である。今回CHARGE症候群に伴うコロボーマに網膜剝離を合併し硝子体手術で治療した症例を経験したので報告する。

症例：患者は41歳，男性。幼少期よりコロボーマと先天性白内障による弱視があった。急激な左眼視力低下を自覚したため近医を受診した。左眼網膜剝離を指摘され自治医科大学附属さいたま医療センター眼科を紹介され受診となった。

所見：矯正視力は右0.02，左0.03，眼圧は右26mmHg，左14mmHg。両眼に虹彩コロボーマ，黄斑部と視神経乳頭を含む広範囲の脈絡膜コロボーマがみられ，左眼はコロボーマの部位以外は網膜全剝離の状態であった。虹彩および脈絡膜コロボーマ，難聴，精神発達遅滞，顔面神経麻痺，外陰部低形成などからCHARGE症候群と考えられた。同日，超音波乳化吸引術，眼内レンズ挿入術，経毛様体扁平部硝子体切除術，網膜光凝固術，シリコーンオイルタンポナーデを施行し，網膜復位を得た。術中所見からコロボーマ外の網膜上方に裂孔を認め，原因裂孔と思われた。半年後にシリコーンオイル抜去術を施行したが網膜再剝離はなく，最終観察日の左眼視力は0.15（矯正不能）であった。

結論：CHARGE症候群症例に伴う脈絡膜コロボーマに合併した網膜剝離に対してシリコーンオイルタンポナーデ併用硝子体手術が有効であった。

Abstract　Purpose：CHARGE syndrome is a congenital morphological abnormality with the main symptoms of Coloboma, Heart disease, Atresia of choanae, Retarded growth and development, Genital abnormalities, and Ear anomalies. We experienced a case of CHARGE syndrome with retinal detachment in coloboma treated by vitrectomy.

Case：The case was a 41-year-old man. From childhood, he had amblyopia due to coloboma and congenital cataract. He was aware of a sudden decrease of vision in the left eye and consulted an ophthalmologist. He was referred to our hospital because of retinal detachment in the left eye.

Findings：Best corrected visual acuity was 0.02 in the right eye and 0.03 in the left eye, whereas intraocular pressure was 26 and 14 mmHg, respectively. Iris coloboma and large choroidal coloboma, including the macula and optic disc were observed in both eyes. Retinal detachment other than at the site of coloboma was observed in the left eye. CHARGE syndrome was suspected from the iris and choroidal coloboma, hearing loss, mental retardation, facial nerve paralysis, and male genital malformations. On the same day, phacoemulsification, intraocular lens insertion, pars plana vitrectomy, retinal photocoagulations, and silicone oil tamponade was performed for the left eye, and the retina was reattached. Intraoperative findings revealed a retinal tear outside the coloboma, which might have been the causative tear for retinal detachment. When the silicone oil was removed 6 months later, retinal detachment did not recur. Best corrected visual acuity at the final observation was 0.15 in the left eye.

Conclusion：In this case of retinal detachment secondary to choroidal coloboma with CHARGE syndrome, vitrectomy and silicone oil tamponade was effective.