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Iridoschisis: high frequency ultrasound imaging. Evidence for a genetic defect?

机译:虹膜虹吸症:高频超声成像。有遗传缺陷的证据吗?

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摘要

AIMS: To elucidate changes in the anatomy of the anterior chamber associated with iridoschisis, a rare form of iris atrophy, and their potential contribution to angle closure glaucoma. METHODS: Both eyes of a 71-year-old woman with bilateral iridoschisis and fibrous dysplasia and her asymptomatic 50-year-old daughter were scanned with a very high frequency (50 MHz) ultrasound system. RESULTS: The symptomatic patient exhibited diffuse changes in the iris stoma with an intact posterior iris pigmented layer in both eyes. These changes were clinically compatible with the lack of iris transillumination defects. Additionally, iris bowing with a resultant narrowing of the angle occurred. The asymptomatic daughter showed discrete, but less severe iris stromal changes. CONCLUSION: This is the first detailed study of high frequency ultrasonic imaging of the iris in iridoschisis. The observed structural changes suggest angle narrowing by forward bowing of the anterior iris stroma may be a mechanism of IOP elevation in this condition. The ultrasonic detection of iris changes in the asymptomatic daughter of the symptomatic patient and the association of iridoschisis with fibrous dysplasia suggest a possible genetic component in the pathogenesis of this condition.
机译:目的:阐明与虹膜下裂(虹膜萎缩的一种罕见形式)相关的前房解剖变化,及其对闭角型青光眼的潜在影响。方法:使用高频(50 MHz)超声系统扫描了一名患有双侧虹膜下裂和纤维异常增生的71岁妇女的双眼及其无症状的50岁女儿。结果:有症状的患者表现出虹膜造口的弥漫性改变,双眼后虹膜色素沉着层完整。这些变化在临床上与虹膜透照缺陷的缺乏兼容。另外,发生虹膜弯曲并导致角度变窄。无症状的女儿表现出离散的但不严重的虹膜基质改变。结论:这是虹膜虹吸症虹膜高频超声成像的首次详细研究。观察到的结构变化表明,在这种情况下,前虹膜基质向前弯曲可能会导致角度变窄。超声检测有症状患者的无症状女儿中的虹膜变化以及虹膜分裂与纤维性异型增生的相关性提示此病的发病机理可能是遗传成分。

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