Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy

Abstract

Early-onset severe retinal dystrophy can be isolated (Leber congenital amaurosis) or the first sign of an underlying systemic ciliopathy, such as Bardet-Biedl syndrome. Early recognition of those children with underlying systemic ciliopathy minimizes morbidity and mortality from later extraocular manifestations, the most common of which is renal disease. We report 2 unrelated children who presented with early-onset severe retinal dystrophy in the context of hypotonia, developmental delay, and a noticeably happy demeanor. Genetic analysis revealed both to harbor recessive mutations in IFT140, a cilium gene recently associated with the skeletal ciliopathy conorenal syndrome.