Clinical and genetic findings in patients with congenital cataract and heart diseases.

ABSTRACT:

Background

Congenital cataract (CC) and congenital heart disease (CHD) are significant birth defects. In clinical practice, the concurrence of CC and CHD is frequently observed in patients. Additionally, some monogenic diseases, copy number variation (CNV) syndromes, and diseases associated with intrauterine infection involve both cataract and heart defects. However, little is known about the association between CC and CHD. Here, we characterised the demographic, clinical, and genetic features of patients with CC and heart defects.

Methods

Medical records for 334 hospitalised patients diagnosed with CC were reviewed. Demographic and clinical features of patients with CC with and without CHD were compared. Clinical and genomic information for patients with 'cataract' and 'car

SUBMITTER: Li X 

PROVIDER: S-EPMC8165991 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature