Ocular anomalies in fragile X syndrome

Fragile X (fra[X]) syndrome is a newly discovered, but relatively common, genetic disorder with an estimated frequency of 1:1000. Several ocular dysfunctions may be associated with this syndrome, but there are few articles that fully report on these. A review of this genetic disorder is provided, as well as a discussion of a case review of a family with three siblings with fragile X syndrome. Since this disorder is the most common familial cause of mental retardation, is second only to Down's syndrome as a genetic cause for mental retardation, and may play a significant role in learning disabilities, the eye care practitioner should be aware of its importance.