Mosaic genetic mutations may be somatic, germline, or “gonosomal” and have the potential to cause genetic syndromes, disorders, or malformations. Mutations can occur at any point in embryonic development and the timing determines the extent of distribution of the mutation throughout the body and different tissue types. The eye and visual pathway offer a unique opportunity to study somatic and gonosomal mosaic mutations as the eye consists of tissues derived from all three germ layers allowing disease pathology to be assessed with noninvasive imaging. In this review, we describe systemic and ocular manifestations in a child with mosaic Coffin‐Siris syndrome. The patient presented with a significant medical history of accommodative esotropia and hyperopia, macrocephaly, polydactyly, global developmental delay, hypotonia, ureteropelvic junction (UPJ) obstruction, and brain MRI abnormalities. The ophthalmic findings in this patient were nonspecific, however, they are consistent with ocular manifestations reported in other patients with Coffin‐Siris syndrome. We also review ophthalmic findings of select mosaic chromosomal and single‐gene disorders. Ophthalmic assessment alongside clinical genetic testing may play an important role in diagnosis of genetic syndromes as well as understanding disease pathology, particularly when mosaicism plays a role.

中文翻译：

---

患有马赛克 ARID1A 相关 Coffin-Siris 综合征的患者的全身和眼部表现以及对具有眼科表现的特定马赛克病症的回顾。

马赛克基因突变可能是体细胞的、种系的或“性状的”，并有可能导致遗传综合征、疾病或畸形。突变可以在胚胎发育的任何时候发生，并且时间决定了突变在整个身体和不同组织类型中的分布程度。眼睛和视觉通路为研究体细胞和性状体镶嵌突变提供了独特的机会，因为眼睛由来自所有三个胚层的组织组成，允许通过无创成像评估疾病病理学。在这篇综述中，我们描述了一名患有马赛克 Coffin-Siris 综合征的儿童的全身和眼部表现。患者有调节性内斜视和远视、大头畸形、多指畸形、整体发育迟缓、肌张力减退、输尿管盆腔交界处 (UPJ) 梗阻和脑 MRI 异常。该患者的眼科发现是非特异性的，但与其他 Coffin-Siris 综合征患者报告的眼部表现一致。我们还回顾了特定镶嵌染色体和单基因疾病的眼科发现。眼科评估和临床基因检测可能在遗传综合征的诊断以及了解疾病病理学方面发挥重要作用，特别是当嵌合体发挥作用时。