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

J AAPOS. 2014 Apr;18(2):203-5. doi: 10.1016/j.jaapos.2013.11.016.


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.

Publication types

  • Case Reports

MeSH terms

  • Bone and Bones / abnormalities*
  • Carrier Proteins / genetics*
  • Cerebellar Ataxia / diagnosis*
  • Cerebellar Ataxia / genetics
  • Child, Preschool
  • Cilia
  • Epiphyses / diagnostic imaging
  • Eye Diseases, Hereditary / diagnosis*
  • Eye Diseases, Hereditary / genetics
  • Humans
  • Infant
  • Male
  • Mutation*
  • Radiography
  • Retinal Dystrophies / diagnosis*
  • Retinal Dystrophies / genetics
  • Retinitis Pigmentosa / diagnosis*
  • Retinitis Pigmentosa / genetics


  • Carrier Proteins

Supplementary concepts

  • Mainzer-Saldino Disease
  • Retinal Dystrophy, Early Onset Severe