[Clinical features of CHARGE syndrome in children]

Objective: To analyze the ocular and systemic clinical features of children with CHARGE syndrome, which is a congenital autosomal dominant developmental disorder mainly characterized by coloboma (C), heart disease (H), atresia choanae (A), retarded growth and central nervous system anomalies (R), genital hypoplasia (G), and ear anomalies and deafness (E). Methods: This was a retrospective caseseries study. Eight children (16 eyes) with CHARGE syndrome who visited the Department of Ophthalmology, Xijing Hospital, Air Force Medical University from January 2018 to December 2022 were included in this study. All 8 children underwent ocular and systemic examinations; 4 children underwent genetic testing. The basic birth conditions, medical history, and family history of the children were recorded in detail. The ocular and systemic clinical manifestations of the children were summarized, and the results of gene sequencing were analyzed. Results: Among the 8 children, 5 were male and 3 were female. The age at the first ophthalmological visit ranged from 2 months to 15 years. Five children were first diagnosed in the ophthalmology department, and 3 were referred from the otolaryngology department. All 8 children had ocular abnormalities such as characteristic, asymmetric, and congenital choroidal coloboma. Among them, the proportion of children with hearing impairment was 7/8, ear malformation was 8/8, developmental delay was 7/8, heart malformation was 5/8, intellectual disability was 3/8, choanal stenosis was 1/8, renal malformation was 1/8, and skeletal malformation was 1/8. All 4 children who underwent genetic testing were found to have mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene, and all were pathogenic de novo mutations. Conclusions: The clinical manifestations of children with CHARGE syndrome are diverse and highly associated with CHD7 gene mutations. The main ocular manifestation is tissue coloboma, and it is often accompanied by severe malformations in multiple organ systems such as the ears, heart, nervous system, and endocrine system.