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

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

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Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. Electronic address:
Center for Human Genetics, Bioscientia, Ingelheim, Germany; Institute of Human Genetics, University of Cologne, Cologne, Germany.
Center for Human Genetics, Bioscientia, Ingelheim, Germany; Department of Nephrology & Center for Clinical Research, University Hospital Freiburg, Germany.


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.

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