Bilateral macular dysplasia in fragile X syndrome

Purpose. Few studies have investigated the eye and vision dysfunctions of c hildren with the fragile X syndrome. Case Report, We report on a preschool boy with bilateral macular dysplasia and fragile X syndrome. His ocular fea tures and phenotypic and genetic expressions are described. His mentally no rmal mother was identified as an expansion mutation carrier, and his older sister has learning disabilities, astigmatic refractive error, squint, and mild ptosis, Intrauterine infection has been excluded. Conclusion, To our k nowledge, the association of macular dysplasia with fragile X syndrome has not been reported. The finding of macular dysplasia might be a coincidental developmental disorder and not a part of the syndrome. It could be conside red a condition causing visual deficit with nystagmus in fragile X syndrome .