Table of Contents
Main Features
Eye Findings
Other Findings
Etiology
Resources
Fragile X Syndrome
Main Features
Intellectual disability (most common cause of inherited disability)
Global developmental delay
Autism
Eye Findings
Refractive Error (17%)
Myopia
Astigmatism
Strabismus (8%)
Esotropia
Nystagmus- rare
Other Findings
Long narrow face
Prominent ears
Macroorchidism after puberty
Joint hypermobility
Mitral valve prolapse
Aortic Root dilation
Seizures (15% males and 5% females
Etiology
mutation in FMR1 gene on Xq27.3
results in hypermethylation and no gene product
Gene product- fragile X messenger ribonucleoprotein- protein involved in synapse development and neuronal function
Resources
Hatton DD et al. Ocular status of boys with fragile X syndrome: a prospective study. JAAPOS 1998;2(5):298-302
Pubmed Abstract: Hagerman RJ. et al. Fragile X Syndrome. Nat Rev Dis Primers. 2017;29:3:17065
syndrome