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.
Humans ; Female ; Child ; Ophthalmoplegia/congenital* ; Fibrosis/congenital* ; Blepharoptosis/surgery* ; Mutation ; Tubulin/genetics* ; Pedigree ; Male ; Esotropia/genetics* ; Congenital Cranial Dysinnervation Disorders

Congenital fibrosis of the extraocular muscles (CFEOM) is a rare, congenital, non-progressive disorder presenting with partial or total ophthalmoplegia, with variable degrees of ptosis in both eyes. We present the clinical manifestations of congenital fibrosis of the extraocular muscles in two patients. Both patients presented with bilateral ptosis and variable ophthalmoplegia with a chin-up posture. The ocular deviations have been noted since birth. No patient demonstrated a Marcus-Gunn jaw-winking phenomenon. Both patients had a mild refractive error with with-the-rule astigmatism. Deviation for both patients revealed exotropia with varying amounts of hypotropia and limitations in the movement of extraocular muscles. Both patients presented no abnormalities in the pupils. Neuroimaging revealed atrophy of the extraocular muscles. Diagnosis of CFEOM in a resource-poor setting is also challenging due to inaccessible gene testing. Manifestations of CFEOM vary across affected patients. CFEOM proposes challenges to the ophthalmologist with regards to management.
congenital fibrosis ; extraocular muscles ; congenital cranial dysinnervation disorders