Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature
Joint Authors
Heindl, Ludwig M.
Avgitidou, Georgia
Siebelmann, Sebastian
Bachmann, Bjoern
Kohlhase, Juergen
Cursiefen, Claus
Source
Case Reports in Ophthalmological Medicine
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-06-29
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Avgitidou, Georgia& Siebelmann, Sebastian& Bachmann, Bjoern& Kohlhase, Juergen& Heindl, Ludwig M.& Cursiefen, Claus. 2015. Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature. Case Reports in Ophthalmological Medicine،Vol. 2015, no. 2015, pp.1-5.
https://search.emarefa.net/detail/BIM-1059391
Modern Language Association (MLA)
Avgitidou, Georgia…[et al.]. Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature. Case Reports in Ophthalmological Medicine No. 2015 (2015), pp.1-5.
https://search.emarefa.net/detail/BIM-1059391
American Medical Association (AMA)
Avgitidou, Georgia& Siebelmann, Sebastian& Bachmann, Bjoern& Kohlhase, Juergen& Heindl, Ludwig M.& Cursiefen, Claus. Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature. Case Reports in Ophthalmological Medicine. 2015. Vol. 2015, no. 2015, pp.1-5.
https://search.emarefa.net/detail/BIM-1059391
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1059391