Congenital retinal dystrophies: a study of early cognitive and visual development.
Department of Neurology and Developmental Paediatrics, Wolfson Centre, London.
The reported incidence of mental retardation in Leber's congenital amaurosis has varied from 10% to 87%. There has been no review of the estimate since it became possible to delineate an increasing number of diagnostic subcategories. In this study, the visual and cognitive development of 38 children with congenital retinal dystrophies has been followed up prospectively. Children with associated disorders in other systems and those with central nervous system malformations or degenerations were significantly more likely to have learning disability than those without additional medical problems. Most subgroups made little or no visual progress with the exception of the group with associated hypoplasia of the cerebellar vermis. The study highlights the importance of using the specialised techniques now available to delineate fully the visual diagnosis and paediatric perspective because of their relevance to cognitive and visual prognosis.
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