Phenotype, genotype, and management of congenital fibrosis of extraocular muscles type 1 in 16 Chinese families.

ABSTRACT:

Purpose

Congenital fibrosis of extraocular muscles type 1 (CFEOM1), a classical subtype of CFEOM, is characterized by restrictive ophthalmoplegia and ptosis. It is mainly caused by aberrant neural innervation of the extraocular muscles. This study aimed to investigate the genetic characteristics and clinical manifestations of CFEOM1 in Chinese families.

Methods

The clinical data, including ocular examinations, magnetic resonance imaging (MRI), and surgical procedures of affected individuals from 16 Chinese CFEOM1 families, were collected. The genomic DNA of 16 probands and their family members were sequenced for causative KIF21A gene mutations. Linkage analysis using microsatellite markers across KIF21A was also conducted.

Results

Affected individuals were presented w

SUBMITTER: Chen M 

PROVIDER: S-EPMC9988770 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature