A family report on congenital fibrosis of extraocular muscles syndrome caused by TUBB3 gene mutation.
10.11817/j.issn.1672-7347.2025.240596
- Author:
Min LI
1
,
2
;
Xin QI
1
;
Yunping LI
1
;
Boding TONG
1
,
3
,
4
Author Information
1. Department of Ophthalmology, Second Xiangya Hospital, Central South University, Changsha
2. 228212314@csu.edu.cn.
3. tbddbt22@
4. com.
- Publication Type:English Abstract
- Keywords:
TUBB3 gene;
congenital fibrosis of extraocular muscles;
exome sequencing;
ptosis;
strabismus
- MeSH:
Humans;
Female;
Child;
Ophthalmoplegia/congenital*;
Fibrosis/congenital*;
Blepharoptosis/surgery*;
Mutation;
Tubulin/genetics*;
Pedigree;
Male;
Esotropia/genetics*;
Congenital Cranial Dysinnervation Disorders
- From:
Journal of Central South University(Medical Sciences)
2025;50(7):1282-1288
- CountryChina
- Language:Chinese
-
Abstract:
Congenital fibrosis of extraocular muscles (CFEOM) syndrome is a genetically determined congenital disorder characterized by non-progressive ophthalmoplegia, restrictive ocular fixation, and ptosis. Its estimated incidence is approximately 1 in 230 000 to 250 000. This paper reports a family with type 3 CFEOM diagnosed at the Second Xiangya Hospital of Central South University. The proband was a 10-year-old female who presented with right esotropia and right upper eyelid ptosis. Whole-exome sequencing revealed a heterozygous c.904G>A mutation in the TUBB3 gene. Genetic testing of family members identified that the proband's mother carried the same mutation and exhibited left eyelid ptosis. The child underwent strabismus correction followed by ptosis repair, both of which led to marked postoperative improvement. For children presenting with congenital extraocular movement restriction and ptosis, genetic testing plays a crucial role in confirming the diagnosis and guiding family analysis. Additionally, individualized surgical intervention can significantly improve both ocular function and cosmetic appearance.
