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.