異なる角膜内皮像を示したKearns-Sayre症候群の2症例

Different corneal endothelial patterns in two cases of Kearns-Sayre syndrome

　Kearns-Sayre症候群の2症例において，腓腹筋を用いたSouthern blot法とPCR法にてミトコンドリアDNAの大欠失を認めた。非接触式スペキュラーマイクロスコープによる角膜中央部の角膜内皮細胞密度は両症例とも同年代の健常者群に比べて著明に少なかった。角膜内皮は症例1ではほぼ均一な細胞面積を示したが，症例2では細胞面積の大きい群と小さい群が混在する所見を呈し，両症例間では角膜内皮像は異なっていた。

We diagnosed a 15-year-old boy and 13-year-old girl as Kearns-Sayre syndrome. Both cases showed large-scale deletion of mitochondrial DNA by Southern blot and polymerase chain reaction of the gastrocnemius muscle. The corneal endothelial cell population was significantly reduced in both cases by specular microscopy. The corneal endothelial pattern was different between the two cases: the cell size was nearly uniform in one case, while clusters of small and large cells were present in the other.