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

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• 作者：Arif O. Khan ; MD^a ; ^{arif.khan@mssm.edu" class="auth_mail} ; Hanno J. Bolz ; MD^b ; ^c ; Carsten Bergmann ; MD^b ; ^d
• 刊名：Journal of American Association for Pediatric Ophthalmology and Strabismus
• 出版年：April, 2014
• 年：2014
• 卷：18
• 期：2
• 页码：203-205
• 全文大小：160 K

文摘

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.