Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy.
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.
Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. Electronic address: arif.khan@mssm.edu.
Arif O
AO
Khan
Center for Human Genetics, Bioscientia, Ingelheim, Germany; Institute of Human Genetics, University of Cologne, Cologne, Germany.
Hanno J
HJ
Bolz
Center for Human Genetics, Bioscientia, Ingelheim, Germany; Department of Nephrology & Center for Clinical Research, University Hospital Freiburg, Germany.
Carsten
C
Bergmann
D001842:Bone and Bones / Q000002:abnormalities*; D002352:Carrier Proteins / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D002923:Cilia; D004838:Epiphyses / Q000000981:diagnostic imaging; D015785:Eye Diseases, Hereditary / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D011859:Radiography; D058499:Retinal Dystrophies / Q000175:diagnosis* / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000235:genetics
D002352:Carrier Proteins