Turner症候群である女児に発症をみたfoveal retinoschisisの1家系

A family of foveal retinoschisis including a female with Turner's syndrome

　典型的なTurner症候群の女児に黄斑部網膜分離症の発症を経験し，家系調査の結果，本症例と全く同じ臨床像を示す黄斑部網膜分離症を母方の従兄弟小父に，また母方の祖父に非特異的黄斑変性の発症を確認した。Turner症候群での先天性網膜分離症の発症例は今日まで内外ともになく，自験例が第1例であること，この症例を含む家系の存在は，先天性網膜分離症をひきおこす遺伝子がX染色体上にあり，劣性遺伝形式をとることの確証を与えうるものとして極めて貴重であることを述べ，黄斑部網膜分離症に対し若干の検討を加えた。

Three cases in a famility with pure foveal re-tinoschisis were presented. The proband, case 1, was a 10-year-old girl who was affected with typical Turner's syndrome. Case 2, a 68-year-old man and her grand father, had bilaterally non-specific atrophic degeneration of the macula, pre-sumably the end stage of the affection. Case 3, a 23-year-old man, was nephew of case 2. He was also affected with typical foveal retinoschisis with-out peripheral schisis of the retina. The ophthal-mological findings of case 1 were identical to those of case 3.