虹彩異色を呈した結節性硬化症

Heterochromia iridis in tuberous sclerosis

　典型的な結節性硬化症の1家系3症例を報告した。1例に虹彩異色と眼底網膜色素上皮層における色素の減少，皮膚色素減少が片側にみられた。体表温低下が色素減少側にみられたことより色素異常に対する全身の片側の交感神経系の機能低下の関与が疑われた。

Tuberous sclerosis was diagnosed in a 42-year-old male and his two sons. Besides typical features ofthe syndrome, the father manifested depigmenta-tion in the left eye involving the retinal pigment epithelium and the iris (heterochromia iridum). Depigmentation of the hair and the skin as sha-green patches was also present on the left side of the body. Theremographic studies indicated lower temperature on the left side of the body. The find-ings suggested sympathetic dysfunction of the af-fected left side of the body as underlying cause for the clinical features.