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Article

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

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Apr 2014

Khan Arif O, Bolz Hanno J, Bergmann Carsten

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...

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Identifiers

PMID: 24698627
DOI: 10.1016/j.jaapos.2013.11.016

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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