Universität zu Köln

Avgitidou, Georgia, Siebelmann, Sebastian, Bachmann, Bjoern, Kohlhase, Juergen, Heindl, Ludwig M. and Cursiefen, Claus (2015). Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature. Case Rep. Ophthalmol. Med., 2015. LONDON: HINDAWI LTD. ISSN 2090-6730

Full text not available from this repository.

Abstract

A 3-year-old boy presented with acute corneal hydrops on the left eye and spontaneous corneal rupture on the right eye. A diagnosis of brittle cornea syndrome was confirmed by molecular analysis. A novel mutation, the homozygous variant c.17T>G, p.V6G, was found in the gene for PR-domain-containing protein 5 (PRDM5) in exon 1. Brittle cornea syndrome is a rare connective tissue disease with typical ocular, auditory, musculoskeletal, and cutaneous disorders. Almost all patients suffer from declined vision due to corneal scarring, thinning, and rupture. The most common ophthalmologic findings include keratoconus, progressive central corneal thinning, high myopia, irregular astigmatism, retinal detachment, and high risk for spontaneous corneal or scleral rupture. In addition to describing the case with a novel mutation here we review the current literature on brittle cornea syndrome pathogenesis, clinical findings, and therapy.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Avgitidou, Georgia UNSPECIFIED UNSPECIFIED UNSPECIFIED Siebelmann, Sebastian UNSPECIFIED UNSPECIFIED UNSPECIFIED Bachmann, Bjoern UNSPECIFIED UNSPECIFIED UNSPECIFIED Kohlhase, Juergen UNSPECIFIED UNSPECIFIED UNSPECIFIED Heindl, Ludwig M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Cursiefen, Claus UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-418476
DOI:	10.1155/2015/637084
Journal or Publication Title:	Case Rep. Ophthalmol. Med.
Volume:	2015
Date:	2015
Publisher:	HINDAWI LTD
Place of Publication:	LONDON
ISSN:	2090-6730
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language OPTICAL COHERENCE TOMOGRAPHY; ZNF469; KERATOPLASTY; CHILDREN Multiple languages Ophthalmology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/41847