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

PURPOSE: To investigate the ophthalmologic manifestations of Korean patients with Gaucher disease. METHODS: Clinical records of 5 patients who were referred to the pediatric ophthalmology clinic of Seoul National University Bundang Hospital after diagnosis of Gaucher disease at the genetics clinic of Ajou University Hospital between 2007 and 2008 were retrospectively reviewed. RESULTS: Five patients with type 3 Gaucher disease had hepatosplenomegaly and oculomotor apraxia, and 4 patients had growth and developmental delay. The most commonly detected genetic mutation was L444P. In addition, P201H, F2131, R257Q, and D315E+Rec 1b were identified. Five patients had oculomotor apraxia and limitation of abduction, and 4 patients had esotropia. One of the 4 patients who showed combined limitation of abduction, oculomotor apraxia, and esotropia, yet did not have growth and developmental delay. CONCLUSIONS: Most of the patients who were referred for ocular motor abnormalities with Gaucher disease showed a limitation of abduction, oculomotor apraxia, and esotropia. In patients with a limitation of abduction, oculomotor apraxia, and esotropia, Gaucher disease should be considered. Ophthalmologic examination is essential for subtyping and prognosing Gaucher disease.
Apraxias ; Diagnosis ; Esotropia ; Gaucher Disease* ; Genetics ; Growth and Development ; Humans ; Lysosomal Storage Diseases ; Ophthalmology ; Retrospective Studies ; Seoul

PURPOSE: The concordance of strabismus in monozygotic twins was examined in order to study the role of genetics in the different types of strabismus. METHODS: The medical charts of 39 pairs of monozygotic twins (63 of 78 subjects had strabismus) dated between May 1985 and December 2005 were reviewed retrospectively. We analyzed each case by refraction, type of strabismus, age of onset, amount of deviation, and stereopsis. RESULTS: Twenty-three of 39 pairs of twins (59%) showed phenotypic concordance; 15 of 21 pairs showed intermittent exotropia (71%), five of nine pairs showed infantile esotropia (55%), and three of four pairs showed partially accommodative esotropia (75%). All pairs with accommodative esotropia showed discordance. One discordant pair showed infantile esotropia, one expressed infantile esotropia, and another expressed sensory exotropia due to congenital cataract. CONCLUSIONS: The concordance rate of monozygotic twins was 59% in this study. Partially accommodative esotropia and intermittent exotropia had high concordance rates of strabismic phenotypes in monozygotic twins. Based on the results of this study, it is suggested that there may be a strong genetic component regarding these types of strabismus. Concordant pairs of monozygotic twins showed similarity in onset, deviation angle, postoperative result, and recurrence.
Age of Onset ; Cataract ; Depth Perception ; Esotropia ; Exotropia ; Genetics ; Humans ; Phenotype ; Recurrence ; Retrospective Studies ; Strabismus* ; Twins, Monozygotic*

PURPOSE: The concordance of strabismus in monozygotic twins was examined in order to study the role of genetics in the different types of strabismus. METHODS: The medical charts of 39 pairs of monozygotic twins (63 of 78 subjects had strabismus) dated between May 1985 and December 2005 were reviewed retrospectively. We analyzed each case by refraction, type of strabismus, age of onset, amount of deviation, and stereopsis. RESULTS: Twenty-three of 39 pairs of twins (59%) showed phenotypic concordance; 15 of 21 pairs showed intermittent exotropia (71%), five of nine pairs showed infantile esotropia (55%), and three of four pairs showed partially accommodative esotropia (75%). All pairs with accommodative esotropia showed discordance. One discordant pair showed infantile esotropia, one expressed infantile esotropia, and another expressed sensory exotropia due to congenital cataract. CONCLUSIONS: The concordance rate of monozygotic twins was 59% in this study. Partially accommodative esotropia and intermittent exotropia had high concordance rates of strabismic phenotypes in monozygotic twins. Based on the results of this study, it is suggested that there may be a strong genetic component regarding these types of strabismus. Concordant pairs of monozygotic twins showed similarity in onset, deviation angle, postoperative result, and recurrence.
Age of Onset ; Cataract ; Depth Perception ; Esotropia ; Exotropia ; Genetics ; Humans ; Phenotype ; Recurrence ; Retrospective Studies ; Strabismus* ; Twins, Monozygotic*