PDF(Pubmed)
Abstract：
CONCLUSIONS: This is a descriptive summary of the case of a patient with Axenfeld-Rieger syndrome associated with a congenital malformation of the iris and consequent pupillary morphological alteration of an atypical characteristic reported. This anomaly is unique in scientific literature and exhibits a peculiarity that we have called pseudoacorea: Hidden pupil. Other associated abnormal clinical findings were posterior embryotoxon, astigmatism, amblyopia, and exotropia. Diagnosis was achieved by instilling ocular mydriatics into the cul-de-sac that revealed this peculiarity. It is necessary to make a differential diagnosis with other pupillary pathologies such as corectopia, acorea and microcoria. Early detection of pathology and surgical management is necessary, since it would lead to a better visual prognosis for both amblyopia and strabismus.
BACKGROUND: Among the malformations of the pupil, we can find polycoria (more than one pupil), dyscoria (abnormal pupil shape), corectopia (abnormal pupil position) and acorea (absence of pupil). In addition, morphologically normal pupils can denote other anomalies such as the microcoria described by Holth in 1923. Acorea is a rare anomaly, congenital or acquired, characterized by an absolute absence of the pupil both at rest and in mydriasis. In our case we prefer to differentiate it and name it pseudoacorea, since although there is a total absence of the pupil at rest thanks to the application of ocular mydriatics, a micropupil with discoric and corectopic characteristics is achieved. It is worth noting that we have not detected in the scientific literature any case described as the one that we will develop here.
CONCLUSIONS: The case of a patient with Axenfeld-Rieger syndrome associated with a congenital malformation of the iris and consequent atypical pupillary morphological alteration is presented. This anomaly is unique in the scientific literature and presents a peculiarity that we have called pseudoacorea: Hidden pupil. Early detection of pathology and surgical management is necessary, since it would lead to a better visual prognosis for both amblyopia and strabismus.
BACKGROUND: Among the malformations of the pupil, we can find polycoria (more than one pupil), dyscoria (abnormal pupil shape), corectopia (abnormal pupil position) and acorea (absence of pupil). In addition, morphologically normal pupils can denote other anomalies such as the microcoria described by Holth in 1923. Acorea is a rare anomaly, congenital or acquired, characterized by an absolute absence of the pupil both at rest and in mydriasis. In our case we prefer to differentiate it and name it pseudoacorea, since although there is a total absence of the pupil at rest thanks to the application of ocular mydriatics, a micropupil with discoric and corectopic characteristics is achieved. It is worth noting that we have not detected in the scientific literature any case described as the one that we will develop here.
CONCLUSIONS: The case of a patient with Axenfeld-Rieger syndrome associated with a congenital malformation of the iris and consequent atypical pupillary morphological alteration is presented. This anomaly is unique in the scientific literature and presents a peculiarity that we have called pseudoacorea: Hidden pupil. Early detection of pathology and surgical management is necessary, since it would lead to a better visual prognosis for both amblyopia and strabismus.
摘要：
结论：这是对一例Axenfeld-Rieger综合征患者的描述性总结，该综合征与先天性虹膜畸形相关，随后发生不典型特征的瞳孔形态学改变。这种异常在科学文献中是独一无二的，并表现出一种我们称之为假眼的特性：隐藏的瞳孔。其他相关的异常临床表现是后胚毒素，散光,弱视,还有外斜视.通过将眼散瞳剂滴入显示这种特殊性的死胡同来实现诊断。有必要与其他瞳孔病变（如直托症）进行鉴别诊断，acorea和microcoria.早期发现病理和手术管理是必要的，因为这将导致更好的视力预后弱视和斜视。
背景：在瞳孔畸形中，我们可以找到多角体（不止一个学生），异常（瞳孔形状异常），直托症（瞳孔位置异常）和棘突（没有瞳孔）。此外,形态正常的瞳孔可以表示其他异常，例如Holth在1923年描述的微角膜。Acorea是一种罕见的异常，先天性或获得性，其特征是在休息和散瞳时都绝对没有瞳孔。在我们的例子中，我们更喜欢区分它并将其命名为伪acorea，因为虽然有一个完全没有的瞳孔在休息由于眼散瞳的应用，获得了具有杂音和异位特征的微瞳孔。值得注意的是，我们在科学文献中没有发现任何被描述为我们将在这里开发的案例。
结论：介绍了一例Axenfeld-Rieger综合征患者，该综合征伴有先天性虹膜畸形和随后的非典型瞳孔形态改变。这种异常在科学文献中是独一无二的，并呈现出一种我们称之为假的特征：隐藏的瞳孔。早期发现病理和手术管理是必要的，因为这将导致更好的视力预后弱视和斜视。
背景：在瞳孔畸形中，我们可以找到多角体（不止一个学生），异常（瞳孔形状异常），直托症（瞳孔位置异常）和棘突（没有瞳孔）。此外,形态正常的瞳孔可以表示其他异常，例如Holth在1923年描述的微角膜。Acorea是一种罕见的异常，先天性或获得性，其特征是在休息和散瞳时都绝对没有瞳孔。在我们的例子中，我们更喜欢区分它并将其命名为伪acorea，因为虽然有一个完全没有的瞳孔在休息由于眼散瞳的应用，获得了具有杂音和异位特征的微瞳孔。值得注意的是，我们在科学文献中没有发现任何被描述为我们将在这里开发的案例。
结论：介绍了一例Axenfeld-Rieger综合征患者，该综合征伴有先天性虹膜畸形和随后的非典型瞳孔形态改变。这种异常在科学文献中是独一无二的，并呈现出一种我们称之为假的特征：隐藏的瞳孔。早期发现病理和手术管理是必要的，因为这将导致更好的视力预后弱视和斜视。
