Universität zu Köln

Khan, Arif O., Bolz, Hanno J. and Bergmann, Carsten (2014). Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy. J. AAPOS, 18 (2). S. 203 - 206. NEW YORK: MOSBY-ELSEVIER. ISSN 1528-3933

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Abstract

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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Khan, Arif O. UNSPECIFIED UNSPECIFIED UNSPECIFIED Bolz, Hanno J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Bergmann, Carsten UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-441444
DOI:	10.1016/j.jaapos.2013.11.016
Journal or Publication Title:	J. AAPOS
Volume:	18
Number:	2
Page Range:	S. 203 - 206
Date:	2014
Publisher:	MOSBY-ELSEVIER
Place of Publication:	NEW YORK
ISSN:	1528-3933
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language ASPHYXIATING THORACIC DYSTROPHY; RIB-POLYDACTYLY SYNDROME; TRANSPORT PROTEIN; MUTATIONS; DYNC2H1; IFT140 Multiple languages Ophthalmology; Pediatrics Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/44144