The fragile X female: a case report of the visual, visual perceptual, and ocular health findings

Fragile X syndrome is one of the most frequently encountered etiologies of X-linked mental retardation. Even though it is second only to Down syndrome in prevalence among children with chromosomal abnormalities, few studies have investigated the visual, visual perceptual and ocular health anomalies associated with this syndrome. No studies have been published that report on these areas for females with fragile X. This case report describes a 10-year-old white female with fragile X syndrome who exhibited numerous oculo-visual and perceptual abnormalities.

A 10-year, 7-month-old white female diagnosed as having fragile X syndrome was examined in the Illinois Eye Institute/Illinois College of Optometry Department of Pediatrics and Binocular Vision using diagnostic techniques appropriate for special populations. These techniques included a battery of tests that determine binocular vision function, ocular health status and visual perceptual abilities.

Oculo-visual abnormalities noted include a non-active chorioretinal lesion, refractive amblyopia, anisometropia, accommodative insufficiency, and convergence excess, as well as mild to severe dysfunctions in visual motor integration, ocular motilities, laterality/directionality, visual figure ground, visual closure, visual form constancy, visual memory and visual sequential memory.

Although thousands of articles, monographs, and textbooks have been written describing the numerous anomalies associated with the fragile X syndrome, little has been published in the area of oculo-visual and visual perceptual dysfunctions associated with this frequently encountered genetic abnormality. This paper is the first to demonstrate the presence of ocular health anomalies and learning-related vision problems that could adversely affect the individual's academic performance and rehabilitative program. Additional research is needed to ascertain the prevalence of these disorders within the fragile X community.