Ophthalmologic findings in the fragile X syndrome

R. L. Storm, R. PeBenito and C. Ferretti

The fragile X (Fra[X]) syndrome is a commonly encountered X-linked recessive chromosomal disorder associated with mental retardation that primarily affects males. The demonstration of a fragile site in the long arm of the X chromosome (Xq27-28) through special culture techniques confirms the diagnosis. Phenotypic features are often lacking, especially in early life. We studied the ophthalmologic and clinical characteristics of 15 patients (13 male and two female) with the Fra(X) syndrome and reviewed the clinical picture of the disorder. Strabismus was the most prevalent ophthalmologic abnormality and was observed in six patients. The frequent occurrence of strabismus in our series suggests that it is a commonly associated abnormality. It is recommended that the Fra(X) syndrome be added to the list of genetic and dysmorphic disorders with which strabismus is frequently associated.