BACKGROUND/PURPOSE: Despite the similar clinical phenotype of the 
Saethre-Chotzen and Muenke craniosynostoses, the 2 syndromes are now 
genotypically distinct. Patients with Saethre-Chotzen and Muenke syndromes carry 
mutations in the TWIST and fibroblast growth factor receptor (FGFR) 3 genes, 
respectively. We sought to assess possible ocular phenotypic differences in 
patients with mutations of either gene previously grouped according to phenotype 
only.
METHODS: A retrospective chart review was performed for 21 children with known 
mutations of the TWIST (n=10) or the FGFR3 (n=11) genes. Data gathered included 
patient sex, age, family craniofacial history, craniofacial and ophthalmic 
surgeries, type of strabismus, ptosis, cycloplegic refraction, visual acuity, 
the presence of amblyopia, nasolacrimal duct obstruction (NLDO), nystagmus, 
hypertelorism, epicanthal fold anomalies, and any ocular structural 
abnormalities.
RESULTS: In the TWIST group, ptosis was present in 90%, amblyopia in 70%, 
horizontal strabismus in 70%, vertical strabismus in 60%, NLDO in 60%, 
astigmatism in 50%, inferior oblique overaction (IOOA) in 40%, hyperopia in 40%, 
myopia in 30%, nystagmus in 30%, and optic nerve findings in 30%. In the FGFR3 
group, ptosis was present in 36%, amblyopia in 18%, horizontal strabismus in 
55%, vertical strabismus in 36%, NLDO in 0%, astigmatism in 9%, IOOA in 45%, 
hyperopia in 27%, myopia in 18%, nystagmus in 18%, and optic nerve findings in 
27%.
CONCLUSIONS: Patients with TWIST gene mutations may have more ophthalmic 
abnormalities, including more strabismus, ptosis, NLDO, astigmatism, vertical 
deviations, and amblyopia compared with patients with FGFR3 gene mutations.