Akshaya K. Gupta, BS1, Gengming Huang, PhD2, Jianli Dong, MD, PhD2*
Fragile X syndrome (FXS) is a common X-linked genetic disorder acquired most commonly by a >200 CGG repeat expansion in the fragile X mental retardation 1 gene (FMR1). Phenotypic manifestations of fragile X syndrome can vary greatly from patient to patient and characteristic features can be absent in early life. Previous literature has described FXS to be associated with a variety of ophthalmologic findings, most frequently with strabismus. We describe three siblings that were diagnosed with FXS, each with various FXS-associated presentations. Two of our patients had ophthalmologic findings including strabismus, lagophthalmos and ptosis. Our study demonstrates ocular findings previously reported with FXS. Patients with FXS are an at-risk population for a variety of ophthalmologic disorders that are reversible if corrected early in life and should benefit from ophthalmologic examinations.
