Harboyan症候群（遺伝性角膜内皮ジストロフィー）の家族例

Family cases of Harboyan syndrome (congenital hereditary endothelial dystrophy)

　内皮性角膜ジストロフィー，進行性の感音性難聴，常染色体劣性遺伝を呈する兄（18歳）と妹（15歳）の家族性発症例を経験したので報告する．本症例は1971年Harboyanらが示したいわゆるHarboyan症候群と同類の症例であり，本邦で初めての報告と思われる．

　両症例の角膜所見としては，実質の著明な浮腫が特徴的であり，正常の約2倍の厚さであった．両症例に対し治療としてそれぞれ片眼に全層角膜移植術を施行し，いったんは透明癒着して視力の改善が得られたが，免疫反応が発現し（角膜移植術後，兄58日目，妹238日目）水疱性角膜症の状態になった．免疫反応による移植角膜片の内皮細胞の傷害が，角膜の透明化を得られなかった原因であろうと推察された．

We observed familial endothelial dystrophy of the cornea associated with progressive labyrinthine deafness in a pair of siblings, a 18-year-old male and his 16-year-old sister. We diagnosed the cases as Harboyan syndrome. This is the first report of this entity in Japan.

Both cases presented bluish-white opacity of the cornea without vascularization. The corneal stroma was edematous with ground-glass appearance andwas swollen to twice its normal thickness. The cor-neal size and sensitivity were normal.

Bilateral and progressive labyrinthine deafness was detected by audiometry.

We performed penetrating keratoplasty in both cases. After a temporary improvement in vision, bullous keratopathy resulted due to immune reac-tions in spite of firm attachment of the transplanted graft.