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

Abstract excerpt

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...

Topics

• Bone and Bones
• Carrier Proteins
• Cerebellar Ataxia
• Child, Preschool
• Cilia
• Epiphyses
• Eye Diseases, Hereditary
• Humans
• Infant
• Male
• Mutation