ABSTRACT

Purpose

To describe a unique ocular presentation of Cat Eye Syndrome and review the ocular and systemic findings associated with the syndrome.

Methods

Case report with multimodal imaging.

Results

A newborn female presented with a unilateral Peters anomaly with contralateral microphthalmia with cyst. The patient’s other systemic findings included a hypoplastic right heart, persistent ductus arteriosus, intrauterine growth retardation, bilateral anotia, preauricular ear pits and skin tags, micrognathia, hypoplastic female genitalia, and unilateral cranial nerve VII palsy. Chromosomal microarray testing showed tetrasomy of chromosome 22 in the q11.1-q11.21 region consistent with Cat Eye Syndrome. The patient ultimately underwent a successful optical iridectomy on one side and orbitotomy with excision of the cystic mass on the other.

Conclusions

The co-occurrence of unilateral Peters anomaly with contralateral microphthalmia with cyst in Cat Eye Syndrome is rare and demonstrative of the syndrome’s phenotypic variability. The medical and surgical management of these patients may require a multidisciplinary approach and must be tailored to the individual findings and overall systemic health of the patient.

中文翻译：

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Peters异常和小眼球囊肿婴儿的猫眼综合症的非典型表现。

摘要

目的

为了描述猫眼综合症的独特眼部表现，并回顾与该综合症相关的眼部和全身发现。

方法

病例报告，多模式成像。

结果

一名新生女性，表现为单侧彼得斯异常，对侧小眼囊肿。患者的其他全身检查结果包括右心发育不全，持续性动脉导管未闭，子宫内生长迟缓，双侧无力，耳前耳窝和皮肤标签，微棘皮症，女性生殖器发育不良和单侧颅神经VII麻痹。染色体微阵列测试显示与猫眼综合症一致的q11.1-q11.21区域的22号染色体四体性。患者最终在一侧成功进行了虹膜虹膜切除术，在另一侧进行了眼眶切开术，并切除了囊性肿块。

结论

在猫眼综合征中，单侧彼得斯异常与对侧微眼症与囊肿并存是罕见的，证明了该综合征的表型变异性。这些患者的医疗和手术管理可能需要采取多学科的方法，并且必须针对患者的个人发现和整体全身健康进行量身定制。