Abstract：
CHARGE syndrome is a rare multi-system condition associated with CHD7 variants. However, ocular manifestations and particularly ophthalmic genotype-phenotype associations, are not well-studied. This study evaluated ocular manifestations and genotype-phenotype associations in pediatric patients with CHARGE syndrome. A retrospective chart review included pediatric patients under 20 years-old with clinical diagnosis of CHARGE syndrome and documented ophthalmic examination. Demographics, genetic testing, and ocular findings were collected. Comprehensive literature review enhanced the genotype-phenotype analysis. Forty-two patients (20 male) underwent eye examination at an average age of 9.45 ± 6.52 years-old. Thirty-nine (93%) had ophthalmic manifestations in at least one eye. Optic nerve/chorioretinal colobomas were most common (38 patients), followed by microphthalmia (13), cataract (6), and iris colobomas (4). Extraocular findings included strabismus (32 patients), nasolacrimal duct obstructions (11, 5 with punctal agenesis), and cranial nerve VII palsy (10). Genotype-phenotype analyses (27 patients) showed variability in ocular phenotypes without association to location or variant types. Splicing (10 patients) and frameshift (10) variants were most prevalent. Patients with CHARGE syndrome may present with a myriad of ophthalmic manifestations. There is limited data regarding genotype-phenotype correlations and additional studies are needed.
摘要：
CHARGE综合征是一种与CHD7变异相关的罕见多系统病症。然而,眼部表现，特别是眼科基因型-表型关联，没有得到很好的研究。这项研究评估了CHARGE综合征患儿的眼部表现和基因型-表型相关性。回顾性图表回顾包括20岁以下临床诊断为CHARGE综合征并记录眼科检查的儿科患者。人口统计,基因检测,并收集眼部检查结果。综合文献综述增强了基因型-表型分析。42例患者（男性20例）接受了眼科检查，平均年龄为9.45±6.52岁。39例（93％）在至少一只眼睛中有眼科表现。视神经/脉络膜视网膜瘤是最常见的（38例），其次是小眼症(13)，白内障（6），和虹膜瘤（4）。眼外发现包括斜视（32例），鼻泪管阻塞（11，5伴有泪点发育不全），和颅神经VII麻痹（10）。基因型-表型分析（27例患者）显示眼部表型的变异性，与位置或变异类型无关。剪接（10例）和移码（10例）变体最普遍。CHARGE综合征患者可表现出无数的眼科表现。关于基因型-表型相关性的数据有限，需要额外的研究。
