眼動脈と黄斑部眼底の先天異常を伴う筋緊張性ジストロフィ

A case of myotonic dystrophy with abnormality in the macula, ophthalmic artery and the skull

　一過性左視力消失を契機に診断された筋緊張性ジストロフィの35歳男性例を報告した．眼症状として，両黄斑部異常，非特異的で極く軽度の両白内障，両低眼圧，左眼瞼下垂，左乾燥性角膜炎，左瞳孔反射異常および左外斜視があった．左眼底では中心窩反射，黄斑輪状反射および黄斑部暗黒斑を欠き，黄斑部に相当する部位には検眼鏡で白色線条を伴った帯状黄色部がみられ，蛍光眼底造影ではwindow defectおよび網状のblockによる低蛍光が認められた．さらに左眼には黄斑部動脈走行異常および非定型的脈絡膜欠損が合併していた．右眼の中心窩反射および黄斑部暗黒斑は同定可能で，網膜血管の異常はないが，黄斑輪状反射は不鮮明であり，点状の低蛍光および過蛍光がわずかにみられた．本症例では眼以外の先天異常として，頭蓋骨肥厚，，トルコ鞍狭小，高口蓋，漏斗胸，潜在性二分脊椎および左眼動脈低形成が確認された．

A 35-year-old male had been diagnosed as amblyopia in the left eye at the age of 8 years. He noticed loss of vision in the left when waking up and sought medical advice immediately. The visual acuity was 1.5 RE and 0 LE. Besides bilateral cataract and ocular hypotony, various abnormalities were detected in the left fundus.

In the left eye, band-shaped yellowish lesion was located along the papillomacular bundle strewn with white streaks. This band appeared as window defect and blocked fluorescence on fluorescein angiogram. Additionally, there were an aberrant retinal artery crossing the macula and an atypical choroidal coloboma. White dots in the perifoveal area were the chief pathological finding in the right eye.

A striking attenuation, or hypoplasia, of the left ophthalmic artery was detected by carotid angiography. The transient visual loss in the left eye seemed to be due to ischemia of ophthalmic artery.

Consecutive examinations confirmed the diagnosis of myotonic dystrophy with various associated features with abnormalities of the skull including cranial hyper. ostosis, small sella turcica, narrow and high-arched palate and occult spina bifida.

Rinsho Ganka (Jpn J Clin Ophthalmol) 40(8) : 949-953. 1986