Clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles.

ABSTRACT:

Objective

This study aimed to describe the clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles (CFEOM), and to evaluate the phenotype-genotype correlations in these patients.

Methods

This was a retrospective study. Patients with CFEOM underwent detailed ophthalmic examinations and magnetic resonance imaging (MRI). Panel-based next-generation sequencing was performed to identify pathogenic variants of disease-causing genes.

Results

Sixty-two patients with CFEOM were recruited into this study. Thirty-nine patients were diagnosed with CFEOM1 and 23 with CFEOM3. Forty-nine of the 62 patients with CFEOM carried either KIF21A (41/49) or TUBB3 variants (8/49). Six known missense variants in the KIF21A and TUBB3 genes,

SUBMITTER: Wu J 

PROVIDER: S-EPMC11325808 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature