胸-骨盆-指骨发育不良的眼部表现
Ocular findings in thoracic-pelvic-phalangeal dystrophy.
作者信息
Allen A W, Moon J B, Hovland K R, Minckler D S
出版信息
Arch Ophthalmol. 1979 Mar;97(3):489-92. doi: 10.1001/archopht.1979.01020010239010.
Abstract
Two unrelated patients with thoracic-pelvic-phalangeal dystrophy syndrome had retinal degeneration. A pathologic study of both eyes from one of the patients showed severe degeneration of the peripheral retina, with predominantly cone-type cells remaining.
摘要
两名患有胸-骨盆-指骨发育不良综合征的非亲缘关系患者出现视网膜变性。对其中一名患者的双眼进行的病理学研究显示，周边视网膜严重变性，主要留存的是视锥细胞类型。
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