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Visual Performance in Specific Syndromes Associated with Intellectual Disability

Purpose To report visual performance in adults with specific causes of intellectual disability (ID) and to compare the test results to published reports. Methods In a large-scale multicenter epidemiologic study of sensory impairments in 1598 adults with ID, the authors performed ocular assessments in 1539 persons. They compared the test results of those with five specific genetic disorders (Angelman syndrome, Prader-Willi syndrome, fragile X syndrome, Williams-Beuren syndrome, and tuberous sclerosis). Results An overrepresentation of strabismus, low vision, and refractive errors was found. Apart from fragile X syndrome and Prader-Willi syndrome (with in general mild to moderate ID), the other syndrome groups contained one or more subjects with visual impairment or blindness. A number of them had never been seen by an ophthalmologist. Conclusions The authors confirm a number of ocular features previously reported by other studies and suggest some additional ocular features. They found increased frequencies of treatable ophthalmologic conditions in the subgroups. Because reliable ocular assessment is feasible for 85% of persons with ID, the results are an incentive to address visual functioning in people with ID in order to correct ocular problems and maximize their possibilities.