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首页> 外文期刊>American Orthoptic Journal >Positive angle kappa: a possible sign of aniridia.
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Positive angle kappa: a possible sign of aniridia.

机译:正角κ:无虹膜的可能迹象。

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摘要

Aniridia is a panocular disorder with variable expressivity, caused by PAX6 mutations. Foveal hypoplasia and nystagmus occur in both aniridia and albinism. Individuals with albinism have a moderately positive angle kappa. This study evaluates the angle kappa in individuals with aniridia.We performed a retrospective chart review of recorded angle kappa for individuals with aniridia. In addition, we prospectively examined the monocular corneal light reflex in each eye of patients with congenital aniridia and central fixation. We recorded other ocular characteristics and the results of gene testing. Patients with eccentric fixation or corneal surgery were excluded, as were patients with retinal abnormalities that might have influenced the angle kappa.We included sixteen individuals with congenital aniridia and found that all had a positive angle kappa. Two patients underwent pattern visual evoked potential (VEP) testing with monocular stimulation and were found to have a reversal of polarity, indicating misrouting of the retino-striate fibers.The phenotype of aniridia is variable. However, a positive angle kappa may be considered to be a frequent clinical feature of aniridia.
机译:虹膜虹膜是由PAX6突变引起的具有可变表达的全眼疾患。小凹增生和眼球震颤在无虹膜和白化病中均发生。白化病患者的角κ适中。这项研究评估了无虹膜个体的角度κ。我们对无虹膜个体的记录的角κ进行了回顾性图表回顾。此外,我们前瞻性检查了先天性无虹膜和中枢固定患者的每只眼的单眼角膜光反射。我们记录了其他眼部特征和基因测试结果。排除了偏心固定或角膜手术的患者,以及可能影响角κ的视网膜异常患者。我们纳入了16名先天性无虹膜患者,发现他们的角κ均为正。两名患者在单眼刺激下进行了模式视觉诱发电位(VEP)测试,发现其极性反转,表明视网膜纹状体纤维错线。无虹膜的表型是可变的。然而,正角κ可能被认为是虹膜虹膜的常见临床特征。

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