Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases.
Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases.
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色素性视网膜炎、外眼肌和完全性心脏传导阻滞：两例病例之一的组织学研究显示的不寻常综合征。
DOI：
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发表时间：
1958
期刊：
影响因子：
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通讯作者：
G. P. Sayre
中科院分区：
文献类型：
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作者：
T. Kearns;G. P. Sayre
视网膜色素变性（视网膜色素变性）可能是一个孤立的发现，与其他系统性异常无关。然而，患者通常可能出现其他异常，其中一些异常与视网膜色素变性相关的发生频率足以被认为是一种综合征。劳伦斯-穆恩-比德尔综合征，包括视网膜色素变性、肥胖、智力迟钝、生殖器发育不良和多指（趾）畸形，就是这样一个例子。也可能有其他不太常见的异常，如耳聋，惊厥，眼肌麻痹，小脑共济失调和早衰症（早衰）与视网膜色素变性。外眼肌麻痹是一种罕见的异常发现与色素变性的视网膜。Barnard和Scholz报告了四个这种关联的案例，并得出结论，这种关联不仅仅是巧合。沃尔什同意他们的观点，并指出这种联系不仅仅是偶然的，而是一种综合症。他列举了他观察到的五个案例，
Pigmentary degeneration of the retina (retinitis pigmentosa) may appear as an isolated finding unassociated with other systemic abnormalities. Often, however, the patient may present other abnormalities, a number of which occur frequently enough in association with retinitis pigmentosa to be recognized as a syndrome. The Lawrence-Moon-Biedl syndrome, consisting of pigmentary degeneration of the retina, obesity, mental retardation, hypogenitalism, and polydactyly, is such an example. There also may be other less common abnormalities, such as deafness, convulsions, ophthalmoplegia, cerebellar ataxia, and progeria (premature aging) associated with retinitis pigmentosa. External ophthalmoplegia is one of the uncommoner abnormalities found associated with pigmentary degeneration of the retina. Barnard and Scholz1reported four cases of this association and concluded that the association was more than just coincidental. Walsh2agreed with them and stated that the association is not just fortuitous but rather represents a syndrome. He listed five cases that he had observed,